X连锁显性遗传
X连锁显性遗传（X-linked dominant inheritance、X-linked dominance）, 是遗传的一种模式，显性基因在X染色体携带。 作为一种遗传模式，不如X连锁隐性遗传类型常见。在医学上，X连锁显性遗传是指导致遗传疾病基因位于X染色体，从父母那里遗传时，仅等位基因一个拷贝就足以引起这种疾病。在这种情况下，基因表达X连锁显性等位基因的人将表现出这种疾病并被认为受到影响。
X-linked dominant traits do not necessarily affect males more than females (unlike X-linked recessive traits). The exact pattern of inheritance varies, depending on whether the father or the mother has the trait of interest. All fathers that are affected by an X-linked dominant disorder will have affected daughters but not affected sons. However, if the mother is also affected then sons will have a chance of being affected, depending on whether a dominant or recessive X chromosome is passed on. When the son is affected, the mother will always be affected. Some X-linked dominant conditions are embryonic lethal in males, making them appear to only occur in females.[来源请求]
遗传学
As the X chromosome is one of the sex chromosomes (the other being the Y chromosome), X-linked inheritance is determined by the sex of the parent carrying a specific gene and can often seem complex. This is due to the fact that, typically, females have two copies of the X-chromosome, while males have only one copy. The difference between dominant and recessive inheritance patterns also plays a role in determining the chances of a child inheriting an X-linked disorder from their parentage.[来源请求]
Males can only get an X chromosome from their mother whilst females get an X chromosome from both parents. As a result, females tend to show higher prevalence of X-linked dominant disorders because they have more of a chance to inherit a faulty X chromosome.[来源请求]
Inheritance
In X-linked dominant inheritance, when the mother alone is the carrier of a mutated, or defective gene associated with a disease or disorder; she herself will have the disorder. Her children will inherit the disorder as follows:
- Of her daughters and sons: 50% will have the disorder, 50% will be completely unaffected. Children of either sex have an even chance of receiving either of their mother's two X chromosomes, one of which contains the defective gene in question.
When the father alone is the carrier of a defective gene associated with a disease or disorder, he too will have the disorder. His children will inherit the disorder as follows:
- Of his daughters: 100% will have the disorder, since all of his daughters will receive one copy of his single X chromosome.
- Of his sons: none will have the disorder; sons do not receive an X chromosome from their father.
If both parents were carriers of a defective gene associated with a disease or disorder, they would both have the disorder. Their children would inherit the disorder as follows:
- Of their daughters: 100% will have the disorder, since all of the daughters will receive a copy of their father's X chromosome.
- Of the sons: 50% will have the disorder, 50% will be completely unaffected. Sons have an equal chance of receiving either of their mother's X chromosomes.
In such a case, where both parents carry and thus are affected by an X-linked dominant disorder, the chance of a daughter receiving two copies of the X chromosome with the defective gene is 50%, since daughters receive one copy of the X chromosome from both parents. Were this to occur with an X-linked dominant disorder, that daughter would likely experience a more severe form.
Some X-linked dominant conditions such as Aicardi syndrome are fatal to boys; therefore only girls with these conditions survive, or boys with Klinefelter's syndrome (and hence have more than one X chromosome).
A few scholars have suggested discontinuing the use of the terms dominant and recessive when referring to X-linked inheritance, stating that the highly variable penetrance of X-linked traits in females as a result of mechanisms such as skewed X-inactivation or somatic mosaicism is difficult to reconcile with standard definitions of dominance and recessiveness.[1]
List of dominant X-linked diseases
- Vitamin D resistant rickets: X-linked hypophosphatemia
- Rett syndrome (95% of cases are due to sporadic mutations)
- Most cases of Alport syndrome[2]
- Incontinentia pigmenti[3][4]
- Giuffrè–Tsukahara syndrome[5]
- Goltz syndrome
- X-linked dominant porphyria[6]
- Aicardi Syndrome
参见
参考
- ^ Dobyns WB, Filauro A, Tomson BN, Chan AS, Ho AW, Ting NT, Oosterwijk JC, Ober C. Inheritance of most X-linked traits is not dominant or recessive, just X-linked. American Journal of Medical Genetics. Part A. August 2004, 129A (2): 136–43. PMID 15316978. doi:10.1002/ajmg.a.30123.
- ^ Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, et al. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study. Journal of the American Society of Nephrology. October 2003, 14 (10): 2603–10. PMID 14514738. doi:10.1097/01.ASN.0000090034.71205.74
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- ^ Ngan V. Incontinentia pigmenti. DermNet NZ. 2005 [2022-12-28]. （原始内容存档于2016-07-07）.
- ^ Incontinentia Pigmenti 于 eMedicine
- ^ Dalal AB, Sarkar A, Priya TP, Nandineni MR. Giuffrè-Tsukahara syndrome: Evidence for X-linked dominant inheritance and review. American Journal of Medical Genetics. Part A. August 2010, 152A (8): 2057–60. PMID 20635354. doi:10.1002/ajmg.a.33505.
- ^ Seager MJ, Whatley SD, Anstey AV, Millard TP. X-linked dominant protoporphyria: a new porphyria. Clinical and Experimental Dermatology. January 2014, 39 (1): 35–7. PMID 24131146. doi:10.1111/ced.12202.
