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Aneuploidy is the presence of an abnormal number of chromosomes in a cell , for example a human somatic cell having 45 or 47 chromosomes instead of the usual 46. It does not include a difference of one or more complete sets of chromosomes . A cell with any number of complete chromosome sets is called a euploid cell.

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59-546: HaCaT is a spontaneously transformed aneuploid immortal keratinocyte cell line from adult human skin, widely used in scientific research. HaCaT cells are utilized for their high capacity to differentiate and proliferate in vitro . Their use in research allows for the characterization of human keratinocyte using a model that is reproducible and addresses issues such as short culture lifespan and variations between cell lines that would otherwise be encountered. These cells have allowed

118-416: A chromosome abnormality . Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome . The mutation responsible can occur spontaneously before embryonic development (a de novo mutation), or it can be inherited from two parents who are carriers of a faulty gene ( autosomal recessive inheritance) or from

177-585: A Model System for Vitamin D3 Metabolism in Human Skin" . Journal of Investigative Dermatology . 108 (1): 78–82. doi : 10.1111/1523-1747.ep12285640 . PMID   8980292 . External links [ edit ] Cellosaurus entry for HaCaT HaCaT cells Retrieved from " https://en.wikipedia.org/w/index.php?title=HaCaT&oldid=1161653363 " Category : Human cell lines Aneuploidy An extra or missing chromosome

236-1018: A Neutral Red Uptake Cytotoxicity Assay". Arzneimittelforschung . 59 (3): 146–152. doi : 10.1055/s-0031-1296378 . PMID   19402346 . S2CID   20840726 . ^ Schoop, Veronika M.; Fusenig, Norbert E.; Mirancea, Nicolae (March 1999). "Epidermal Organization and Differentiation of HaCaT Keratinocytes in Organotypic Coculture with Human Dermal Fibroblasts" . Journal of Investigative Dermatology . 112 (3): 343–353. doi : 10.1046/j.1523-1747.1999.00524.x . PMID   10084313 . ^ Schürer, N; Köhne, A; Schliep, V; Barlag, K; Goerz, G (Aug 1993). "Lipid composition and synthesis of HaCaT cells, an immortalized human keratinocyte line, in comparison with normal human adult keratinocytes". Experimental Dermatology . 2 (4): 179–85. doi : 10.1111/j.1600-0625.1993.tb00030.x . PMID   8162337 . S2CID   20709063 . ^ Lehmann, Bodo (1 January 1997). "HaCaT Cell Line as

295-445: A child affected by the disorder. Examples of this type of disorder are albinism , medium-chain acyl-CoA dehydrogenase deficiency , cystic fibrosis , sickle cell disease , Tay–Sachs disease , Niemann–Pick disease , spinal muscular atrophy , and Roberts syndrome . Certain other phenotypes, such as wet versus dry earwax , are also determined in an autosomal recessive fashion. Some autosomal recessive disorders are common because, in

354-577: A female in terms of disease severity. The chance of passing on an X-linked dominant disorder differs between men and women. The sons of a man with an X-linked dominant disorder will all be unaffected (since they receive their father's Y chromosome), but his daughters will all inherit the condition. A woman with an X-linked dominant disorder has a 50% chance of having an affected foetus with each pregnancy, although in cases such as incontinentia pigmenti, only female offspring are generally viable. X-linked recessive conditions are also caused by mutations in genes on

413-447: A gene into the potentially trillions of cells that carry the defective copy. Finding an answer to this has been a roadblock between understanding the genetic disorder and correcting the genetic disorder. Around 1 in 50 people are affected by a known single-gene disorder, while around 1 in 263 are affected by a chromosomal disorder . Around 65% of people have some kind of health problem as a result of congenital genetic mutations. Due to

472-418: A genetic disorder rests on the inheritance of genetic material. With an in depth family history , it is possible to anticipate possible disorders in children which direct medical professionals to specific tests depending on the disorder and allow parents the chance to prepare for potential lifestyle changes, anticipate the possibility of stillbirth , or contemplate termination . Prenatal diagnosis can detect

531-619: A hereditary disease is an acquired disease . Most cancers , although they involve genetic mutations to a small proportion of cells in the body, are acquired diseases. Some cancer syndromes , however, such as BRCA mutations , are hereditary genetic disorders. A single-gene disorder (or monogenic disorder ) is the result of a single mutated gene. Single-gene disorders can be passed on to subsequent generations in several ways. Genomic imprinting and uniparental disomy , however, may affect inheritance patterns. The divisions between recessive and dominant types are not "hard and fast", although

590-636: A known single-gene disorder, while around 1 in 263 are affected by a chromosomal disorder . Around 65% of people have some kind of health problem as a result of congenital genetic mutations. Due to the significantly large number of genetic disorders, approximately 1 in 21 people are affected by a genetic disorder classified as " rare " (usually defined as affecting less than 1 in 2,000 people). Most genetic disorders are rare in themselves. Genetic disorders are present before birth, and some genetic disorders produce birth defects , but birth defects can also be developmental rather than hereditary . The opposite of

649-475: A light microscope are called the karyotype . [REDACTED] During meiosis , when germ cells divide to create sperm and egg (gametes), each half should have the same number of chromosomes. But sometimes, the whole pair of chromosomes will end up in one gamete, and the other gamete will not get that chromosome at all. Most embryos cannot survive with a missing or extra autosome (numbered chromosome) and are miscarried. The most frequent aneuploidy in humans

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708-403: A mitotic division would result in one daughter cell for each spindle pole; each cell may possess an unpredictable complement of chromosomes. Monopolar spindle : only a single spindle pole forms. This produces a single daughter cell with its copy number doubled. A tetraploid intermediate may be produced as the end-result of the monopolar spindle mechanism. In such a case, the cell has double

767-592: A parent with the disorder ( autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease . Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known genetic disorders, and new genetic disorders are constantly being described in medical literature. More than 600 genetic disorders are treatable. Around 1 in 50 people are affected by

826-787: A person to be affected by an autosomal dominant disorder. Each affected person usually has one affected parent. The chance a child will inherit the mutated gene is 50%. Autosomal dominant conditions sometimes have reduced penetrance , which means although only one mutated copy is needed, not all individuals who inherit that mutation go on to develop the disease. Examples of this type of disorder are Huntington's disease , neurofibromatosis type 1 , neurofibromatosis type 2 , Marfan syndrome , hereditary nonpolyposis colorectal cancer , hereditary multiple exostoses (a highly penetrant autosomal dominant disorder), tuberous sclerosis , Von Willebrand disease , and acute intermittent porphyria . Birth defects are also called congenital anomalies. Two copies of

885-410: A pregnancy, through either amniocentesis or chorionic villus sampling . Pregnant women of 35 years or older are offered prenatal testing because the chance of chromosomal aneuploidy increases as the mother's age increases. Recent advances have allowed for less invasive testing methods based on the presence of fetal genetic material in maternal blood. See Triple test and Cell-free fetal DNA . In

944-416: A scenario could result in each daughter cell possessing a disjoint set of genetic material. Merotelic attachment occurs when one kinetochore is attached to both mitotic spindle poles. One daughter cell would have a normal complement of chromosomes; the second would lack one. A third daughter cell may end up with the 'missing' chromosome. Multipolar spindles : more than two spindle poles form. Such

1003-409: A very small minority of Down syndrome cases (<5%). The formation of one isochromosome results in partial trisomy of the genes present in the isochromosome and partial monosomy of the genes in the lost arm. Agents capable of causing aneuploidy are called aneugens. Many mutagenic carcinogens are aneugens. X-rays , for example, may cause aneuploidy by fragmenting the chromosome; it may also target

1062-465: Is Leber's hereditary optic neuropathy . It is important to stress that the vast majority of mitochondrial diseases (particularly when symptoms develop in early life) are actually caused by a nuclear gene defect, as the mitochondria are mostly developed by non-mitochondrial DNA. These diseases most often follow autosomal recessive inheritance. Genetic disorders may also be complex, multifactorial, or polygenic, meaning they are likely associated with

1121-714: Is trisomy 16 and fetuses affected with the full version of this chromosome abnormality do not survive to term, although it is possible for surviving individuals to have the mosaic form , where trisomy 16 exists in some cells but not all. The most common aneuploidy that infants can survive with is trisomy 21, which is found in Down syndrome , affecting 1 in 800 births. Trisomy 18 (Edwards syndrome) affects 1 in 6,000 births, and trisomy 13 (Patau syndrome) affects 1 in 10,000 births. 10% of infants with trisomy 18 or 13 reach 1 year of age. Changes in chromosome number may not necessarily be present in all cells in an individual. When aneuploidy

1180-407: Is a characteristic of many types of tumorigenesis . Aneuploidy arises from errors in chromosome segregation , which can go wrong in several ways. Nondisjunction usually occurs as the result of a weakened mitotic checkpoint , as these checkpoints tend to arrest or delay cell division until all components of the cell are ready to enter the next phase. For example, if a checkpoint is weakened,

1239-547: Is a common cause of some genetic disorders . Some cancer cells also have abnormal numbers of chromosomes. About 68% of human solid tumors are aneuploid. Aneuploidy originates during cell division when the chromosomes do not separate properly between the two cells ( nondisjunction ). Most cases of aneuploidy in the autosomes result in miscarriage , and the most common extra autosomal chromosomes among live births are 21 , 18 and 13 . Chromosome abnormalities are detected in 1 of 160 live human births. Autosomal aneuploidy

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1298-405: Is also a strong environmental component to many of them (e.g., blood pressure ). Other such cases include: A chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes. An example of these disorders is Trisomy 21 (the most common form of Down syndrome ), in which there

1357-423: Is also considered a recessive condition, but heterozygous carriers have increased resistance to malaria in early childhood, which could be described as a related dominant condition. When a couple where one partner or both are affected or carriers of a single-gene disorder wish to have a child, they can do so through in vitro fertilization, which enables preimplantation genetic diagnosis to occur to check whether

1416-412: Is an extra copy of chromosome 21 in all cells. Due to the wide range of genetic disorders that are known, diagnosis is widely varied and dependent of the disorder. Most genetic disorders are diagnosed pre-birth , at birth , or during early childhood however some, such as Huntington's disease , can escape detection until the patient begins exhibiting symptoms well into adulthood. The basic aspects of

1475-406: Is associated with a 2.8-fold increase of XX disomy and a 2.6-fold increase of YY disomy in spermatozoa. Pesticides are released to the environment in sufficiently large quantities that most individuals have some degree of exposure. The insecticides fenvalerate and carbaryl have been reported to increase spermatozoa aneuploidy. Occupational exposure of pesticide factory workers to fenvalerate

1534-597: Is associated with increased spermatozoa DNA damage. Exposure to fenvalerate raised sex chromosome disomy 1.9-fold and disomy of chromosome 18 by 2.6-fold. Exposure of male workers to carbaryl increased DNA fragmentation in spermatozoa, and also increased sex chromosome disomy by 1.7-fold and chromosome 18 disomy by 2.2-fold. Humans are exposed to perfluorinated compounds (PFCs) in many commercial products. Men contaminated with PFCs in whole blood or seminal plasma have spermatozoa with increased levels of DNA fragmentation and chromosomal aneuploidies. Germline aneuploidy

1593-428: Is detected in a fraction of cells in an individual, it is called chromosomal mosaicism . In general, individuals who are mosaic for a chromosomal aneuploidy tend to have a less severe form of the syndrome compared to those with full trisomy . For many of the autosomal trisomies, only mosaic cases survive to term. However, mitotic aneuploidy may be more common than previously recognized in somatic tissues, and aneuploidy

1652-423: Is inherited from the mother and the other copy is inherited from the father. The first 22 pairs of chromosomes (called autosomes ) are numbered from 1 to 22, from largest to smallest. The 23rd pair of chromosomes are the sex chromosomes . Typical females have two X chromosomes , while typical males have one X chromosome and one Y chromosome . The characteristics of the chromosomes in a cell as they are seen under

1711-428: Is more dangerous than sex chromosome aneuploidy, as autosomal aneuploidy is almost always lethal to embryos that cease developing because of it. As women age, oocytes develop defects in mitochondrial structure and function and have meiotic spindle dysregulation: these increase rates of aneuploidy and miscarriage. The rates of aneuploidy in women using IVF increases from 30% around the age 31 to 36% (age 36), with

1770-421: Is only possible through the circumvention of infertility by medical intervention. This type of inheritance, also known as maternal inheritance, is the rarest and applies to the 13 genes encoded by mitochondrial DNA . Because only egg cells contribute mitochondria to the developing embryo, only mothers (who are affected) can pass on mitochondrial DNA conditions to their children. An example of this type of disorder

1829-416: Is opposed to the more traditional phenotype-first approach, and may identify causal factors that have previously been obscured by clinical heterogeneity , penetrance , and expressivity. On a pedigree, polygenic diseases do tend to "run in families", but the inheritance does not fit simple patterns as with Mendelian diseases. This does not mean that the genes cannot eventually be located and studied. There

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1888-405: Is the most common molecular lesion in cancer-cells, even more frequent than gene mutations. Tumor suppressor gene silencing by CpG island promoter hypermethylation is supposed to be the most frequent epigenetic modification in cancer cells. Epigenetic characteristics of cells may be modified by several factors including environmental exposure, deficiencies of certain nutrients, radiation, etc. Some of

1947-593: Is typically detected through karyotyping , a process in which a sample of cells is fixed and stained to create the typical light and dark chromosomal banding pattern and a picture of the chromosomes is analyzed. Other techniques include fluorescence in situ hybridization (FISH), quantitative PCR of short tandem repeats , quantitative fluorescence PCR (QF-PCR), quantitative PCR dosage analysis, Quantitative Mass Spectrometry of Single Nucleotide Polymorphisms, and comparative genomic hybridization (CGH). These tests can also be performed prenatally to detect aneuploidy in

2006-399: The X chromosome. Males are much more frequently affected than females, because they only have the one X chromosome necessary for the condition to present. The chance of passing on the disorder differs between men and women. The sons of a man with an X-linked recessive disorder will not be affected (since they receive their father's Y chromosome), but his daughters will be carriers of one copy of

2065-443: The Y chromosome. These conditions may only be transmitted from the heterogametic sex (e.g. male humans) to offspring of the same sex. More simply, this means that Y-linked disorders in humans can only be passed from men to their sons; females can never be affected because they do not possess Y-allosomes. Y-linked disorders are exceedingly rare but the most well-known examples typically cause infertility. Reproduction in such conditions

2124-448: The active time of a genetic disorder, patients mostly rely on maintaining or slowing the degradation of quality of life and maintain patient autonomy . This includes physical therapy and pain management . The treatment of genetic disorders is an ongoing battle, with over 1,800 gene therapy clinical trials having been completed, are ongoing, or have been approved worldwide. Despite this, most treatment options revolve around treating

2183-430: The alterations have been correlated with the formation of aneuploid cells in vivo. In this study it is suggested on a growing basis of evidence, that not only genetics but also epigenetics, contribute to aneuploid cell formation. The terms "partial monosomy" and "partial trisomy" are used to describe an imbalance of genetic material caused by loss or gain of part of a chromosome. In particular, these terms would be used in

2242-445: The aneuploidy genotype. In addition, genetic syndromes in which an individual is predisposed to breakage of chromosomes ( chromosome instability syndromes ) are frequently associated with increased risk for various types of cancer, thus highlighting the role of somatic aneuploidy in carcinogenesis . The ability to evade the immune system appears to be enhanced in tumoral cells with strong aneuploidy. This has therefore suggested that

2301-869: The brain is actually very rare. Aneuploidy is consistently observed in virtually all cancers. The German biologist Theodor Boveri was first to propose a causative role for aneuploidy in cancer. However, the theory of Boveri was forgotten until the molecular biologist Peter Duesberg reappraised it. Understanding through what mechanisms it can affect tumor evolution is an important topic of current cancer research. Somatic mosaicism occurs in virtually all cancer cells, including trisomy 12 in chronic lymphocytic leukemia (CLL) and trisomy 8 in acute myeloid leukemia (AML). However, these forms of mosaic aneuploidy occur through mechanisms distinct from those typically associated with genetic syndromes involving complete or mosaic aneuploidy, such as chromosomal instability (due to mitotic segregation defects in cancer cells). Therefore,

2360-446: The cell may fail to 'notice' that a chromosome pair is not lined with the spindle apparatus . In such a case, most chromosomes would separate normally (with one chromatid ending up in each cell), while others could fail to separate at all. This would generate a daughter cell lacking a copy and a daughter cell with an extra copy. Completely inactive mitotic checkpoints may cause nondisjunction at multiple chromosomes, possibly all. Such

2419-773: The characterization of several processes, such as their utilization as a model system for vitamin D 3 metabolism in the skin. References [ edit ] ^ Boukamp, Petra; Petrussevska, Rule T.; Breitkreutz, Dirk; Hornung, Jiirgen; Markham, Alex; Fusenig, Norbert E. (1 March 1988). "Normal keratinization in a spontaneously immortalized aneuploid human keratinocyte cell line" . The Journal of Cell Biology . 106 (3): 761–771. doi : 10.1083/jcb.106.3.761 . PMC   2115116 . PMID   2450098 . ^ Ölschläger, Veronika; Schrader, Andreas; Hockertz, Stefan (13 December 2011). "Comparison of Primary Human Fibroblasts and Keratinocytes with Immortalized Cell Lines Regarding their Sensitivity to Sodium Dodecyl Sulfate in

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2478-848: The copy number of a normal cell, and produces double the number of spindle poles as well. This results in four daughter cells with an unpredictable complement of chromosomes, but in the normal copy number. Mosaicism for aneuploid chromosome content may be part of the constitutional make-up of the mammalian brain. In the normal human brain, brain samples from six individuals ranging from 2–86 years of age had mosaicism for chromosome 21 aneuploidy (average of 4% of neurons analyzed). This low-level aneuploidy appears to arise from chromosomal segregation defects during cell division in neuronal precursor cells, and neurons containing such aneuploid chromosome content reportedly integrate into normal circuits. However, recent research using single-cell sequencing has challenged these findings, and has suggested that aneuploidy in

2537-440: The divisions between autosomal and X-linked types are (since the latter types are distinguished purely based on the chromosomal location of the gene). For example, the common form of dwarfism , achondroplasia , is typically considered a dominant disorder, but children with two genes for achondroplasia have a severe and usually lethal skeletal disorder, one that achondroplasics could be considered carriers for. Sickle cell anemia

2596-421: The effects of multiple genes in combination with lifestyles and environmental factors. Multifactorial disorders include heart disease and diabetes . Although complex disorders often cluster in families, they do not have a clear-cut pattern of inheritance. This makes it difficult to determine a person's risk of inheriting or passing on these disorders. Complex disorders are also difficult to study and treat because

2655-426: The embryo has the genetic disorder. Most congenital metabolic disorders known as inborn errors of metabolism result from single-gene defects. Many such single-gene defects can decrease the fitness of affected people and are therefore present in the population in lower frequencies compared to what would be expected based on simple probabilistic calculations. Only one mutated copy of the gene will be necessary for

2714-490: The further rapid 7% increase every year, reaching 89% chances of aneuploidy around the age 45. Most cells in the human body have 23 pairs of chromosomes , or a total of 46 chromosomes. (The sperm and egg, or gametes , each have 23 unpaired chromosomes, and red blood cells in bone marrow have a nucleus at first but those red blood cells that are active in blood lose their nucleus and thus they end up having no nucleus and therefore no chromosomes.) One copy of each pair

2773-408: The gene must be mutated for a person to be affected by an autosomal recessive disorder. An affected person usually has unaffected parents who each carry a single copy of the mutated gene and are referred to as genetic carriers . Each parent with a defective gene normally do not have symptoms. Two unaffected people who each carry one copy of the mutated gene have a 25% risk with each pregnancy of having

2832-498: The mechanisms involved in aneuploidy formation, specifically on the epigenetic origin of aneuploid cells. Epigenetic inheritance is defined as cellular information other than the DNA sequence itself, that is still heritable during cell division. DNA methylation and histone modifications comprise two of the main epigenetic modifications important for many physiological and pathological conditions, including cancer. Aberrant DNA methylation

2891-530: The molecular processes that lead to aneuploidy are targets for the development of cancer drugs. Both resveratrol and aspirin have been found in vivo (in mice) to selectively destroy tetraploid cells that may be precursors of aneuploid cells, and activate AMPK , which may be involved in the process. Alteration of normal mitotic checkpoints are also important tumorigenic events, and these may directly lead to aneuploidy. Loss of tumor suppressor p53 gene often results in genomic instability , which could lead to

2950-643: The mutated gene. A woman who is a carrier of an X-linked recessive disorder (X X ) has a 50% chance of having sons who are affected and a 50% chance of having daughters who are carriers of one copy of the mutated gene. X-linked recessive conditions include the serious diseases hemophilia A , Duchenne muscular dystrophy , and Lesch–Nyhan syndrome , as well as common and less serious conditions such as male pattern baldness and red–green color blindness . X-linked recessive conditions can sometimes manifest in females due to skewed X-inactivation or monosomy X ( Turner syndrome ). Y-linked disorders are caused by mutations on

3009-1003: The past, carrying one of the faulty genes led to a slight protection against an infectious disease or toxin such as tuberculosis or malaria . Such disorders include cystic fibrosis, sickle cell disease, phenylketonuria and thalassaemia . X-linked dominant disorders are caused by mutations in genes on the X chromosome . Only a few disorders have this inheritance pattern, with a prime example being X-linked hypophosphatemic rickets . Males and females are both affected in these disorders, with males typically being more severely affected than females. Some X-linked dominant conditions, such as Rett syndrome , incontinentia pigmenti type 2, and Aicardi syndrome , are usually fatal in males either in utero or shortly after birth, and are therefore predominantly seen in females. Exceptions to this finding are extremely rare cases in which boys with Klinefelter syndrome (44+xxy) also inherit an X-linked dominant condition and exhibit symptoms more similar to those of

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3068-399: The presence of an abnormal number of chromosomes might be an effective predictive biomarker for response to precise immunotherapy. For example, in melanoma patients, high somatic copy number alterations are associated with less effective response to immune checkpoint blockade anti– CTLA4 (cytotoxic T lymphocyte–associated protein 4) therapy. A research work published in 2008 focuses on

3127-606: The presence of characteristic abnormalities in fetal development through ultrasound , or detect the presence of characteristic substances via invasive procedures which involve inserting probes or needles into the uterus such as in amniocentesis . Not all genetic disorders directly result in death; however, there are no known cures for genetic disorders. Many genetic disorders affect stages of development, such as Down syndrome , while others result in purely physical symptoms such as muscular dystrophy . Other disorders, such as Huntington's disease , show no signs until adulthood. During

3186-423: The significantly large number of genetic disorders, approximately 1 in 21 people are affected by a genetic disorder classified as " rare " (usually defined as affecting less than 1 in 2,000 people). Most genetic disorders are rare in themselves. There are well over 6,000 known genetic disorders, and new genetic disorders are constantly being described in medical literature. The earliest known genetic condition in

3245-474: The situation of an unbalanced translocation , where an individual carries a derivative chromosome formed through the breakage and fusion of two different chromosomes. In this situation, the individual would have three copies of part of one chromosome (two normal copies and the portion that exists on the derivative chromosome) and only one copy of part of the other chromosome involved in the derivative chromosome. Robertsonian translocations , for example, account for

3304-401: The specific factors that cause most of these disorders have not yet been identified. Studies that aim to identify the cause of complex disorders can use several methodological approaches to determine genotype – phenotype associations. One method, the genotype-first approach , starts by identifying genetic variants within patients and then determining the associated clinical manifestations. This

3363-502: The spindle apparatus. Other chemicals such as colchicine can also produce aneuploidy by affecting microtubule polymerization . Exposure of males to lifestyle, environmental and/or occupational hazards may increase the risk of spermatozoa aneuploidy. Tobacco smoke contains chemicals that cause DNA damage. Smoking can also induce aneuploidy. For instance, smoking increases chromosome 13 disomy in spermatozoa by 3-fold, and YY disomy by 2-fold. Occupational exposure to benzene

3422-439: The strict sense, a chromosome complement having a number of chromosomes other than 46 (in humans) is considered heteroploid while an exact multiple of the haploid chromosome complement is considered euploid . Genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome . It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by

3481-442: The symptoms of the disorders in an attempt to improve patient quality of life . Gene therapy refers to a form of treatment where a healthy gene is introduced to a patient. This should alleviate the defect caused by a faulty gene or slow the progression of the disease. A major obstacle has been the delivery of genes to the appropriate cell, tissue, and organ affected by the disorder. Researchers have investigated how they can introduce

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