跳转到内容

X连锁隐性遗传

维基百科,自由的百科全书
X连锁隐性遗传
Patterns of X-linked recessive inheritance in a royal family

X连锁隐性遗传X-linked recessive inheritance)是孟德尔遗传一种模式,其中X染色体基因突变导致表型总是在男性中表达(对于基因突变来说必然是纯合,因为有一条X和一条Y染色体),在基因突变纯合的女性中,参见合子。携带一份突变基因的女性是携带者。

X连锁遗传是指导致性状或疾病的基因位于X染色体上。女性有两X染色体,而男性有一X染色体和一Y染色体。只有一个突变拷贝的携带者女性通常不会表现出表型,尽管X染色体失活英语X-chromosome inactivation倾斜X失活英语skewed X-inactivation)的差异会导致携带者不同程度的临床表现女性,因为有些细胞会表达一个 X等位基因,而有些细胞会表达另一个。目前对已测序的X连锁基因的估计是499个,包括模糊定义的性状在内的总数是983个。[1]

继承模式

[编辑]
已隐藏部分未翻译内容,欢迎参与翻译

In humans, inheritance of X-linked recessive traits follows a unique pattern made up of three points.

  • The first is that affected fathers cannot pass X-linked recessive traits to their sons because fathers give Y chromosomes to their sons. This means that males affected by an X-linked recessive disorder inherited the responsible X chromosome from their mothers.
  • Second, X-linked recessive traits are more commonly expressed in males than females.[2] This is due to the fact that males possess only a single X chromosome, and therefore require only one mutated X in order to be affected. Women possess two X chromosomes, and thus must receive two of the mutated recessive X chromosomes (one from each parent). A popular example showing this pattern of inheritance is that of the descendants of Queen Victoria and the blood disease hemophilia.[3]
  • The last pattern seen is that X-linked recessive traits tend to skip generations, meaning that an affected grandfather will not have an affected son, but could have an affected grandson through his daughter.[4] Explained further, all daughters of an affected man will obtain his mutated X, and will then be either carriers or affected themselves depending on the mother. The resulting sons will either have a 50% chance of being affected (mother is carrier), or 100% chance (mother is affected). It is because of these percentages that we see males more commonly affected than females.

Pushback on recessive/dominant terminology

[编辑]

A few scholars have suggested discontinuing the use of the terms dominant and recessive when referring to X-linked inheritance.[5] The possession of two X chromosomes in females leads to dosage issues which are alleviated by X-inactivation.[6] 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, scholars have suggested referring to traits on the X chromosome simply as X-linked.[5]

Examples

[编辑]

Most common

[编辑]

The most common X-linked recessive disorders are:[7]

  • Red–green color blindness, a very common trait in humans and frequently used to explain X-linked disorders.[8] Between seven and ten percent of men and 0.49% to 1% of women are affected. Its commonness may be explained by its relatively benign nature. It is also known as daltonism.
  • Hemophilia A, a blood clotting disorder caused by a mutation of the Factor VIII gene and leading to a deficiency of Factor VIII. It was once thought to be the "royal disease" found in the descendants of Queen Victoria. This is now known to have been Hemophilia B (see below).[9][10]
  • Hemophilia B, also known as Christmas disease,[11] a blood clotting disorder caused by a mutation of the Factor IX gene and leading to a deficiency of Factor IX. It is rarer than hemophilia A. As noted above, it was common among the descendants of Queen Victoria.
  • Duchenne muscular dystrophy, which is associated with mutations in the dystrophin gene. It is characterized by rapid progression of muscle degeneration, eventually leading to loss of skeletal muscle control, respiratory failure, and death.
  • Becker's muscular dystrophy, a milder form of Duchenne, which causes slowly progressive muscle weakness of the legs and pelvis.
  • X-linked ichthyosis, a form of ichthyosis caused by a hereditary deficiency of the steroid sulfatase (STS) enzyme. It is fairly rare, affecting one in 2,000 to one in 6,000 males.[12]
  • X-linked agammaglobulinemia (XLA), which affects the body's ability to fight infection. XLA patients do not generate mature B cells.[13] B cells are part of the immune system and normally manufacture antibodies (also called immunoglobulins) which defends the body from infections (the humoral response). Patients with untreated XLA are prone to develop serious and even fatal infections.[14]
  • Glucose-6-phosphate dehydrogenase deficiency, which causes nonimmune hemolytic anemia in response to a number of causes, most commonly infection or exposure to certain medications, chemicals, or foods. Commonly known as "favism", as it can be triggered by chemicals existing naturally in broad (or fava) beans.[15]

Less common disorders

[编辑]

Theoretically, a mutation in any of the genes on chromosome X may cause disease, but below are some notable ones, with short description of symptoms:

另见

[编辑]

参考

[编辑]
  1. ^ OMIM X-linked Genes. nih.gov. [3 May 2018]. (原始内容存档于7 March 2016). 
  2. ^ Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals. National Center for Biotechnology Information. 8 July 2009 [9 June 2020]. (原始内容存档于2022-11-27). 
  3. ^ History of Bleeding Disorders. National Hemophilia Foundation. 2014-03-04 [2020-06-09]. (原始内容存档于2020-11-12) (英语). 
  4. ^ Pierce, Benjamin A. Genetics: A Conceptual Approach. Macmillan Learning. 2020: 154–155. ISBN 978-1-319-29714-5. 
  5. ^ 5.0 5.1 Dobyns, William B.; Filauro, Allison; Tomson, Brett N.; Chan, April S.; Ho, Allen W.; Ting, Nicholas T.; Oosterwijk, Jan C.; Ober, Carole. Inheritance of most X-linked traits is not dominant or recessive, just X-linked. American Journal of Medical Genetics. 2004, 129A (2): 136–43. PMID 15316978. S2CID 42108591. doi:10.1002/ajmg.a.30123. 
  6. ^ Shvetsova, Ekaterina; Sofronova, Alina; Monajemi, Ramin; Gagalova, Kristina; Draisma, Harmen H. M.; White, Stefan J.; Santen, Gijs W. E.; Chuva de Sousa Lopes, Susana M.; Heijmans, Bastiaan T.; van Meurs, Joyce; Jansen, Rick. Skewed X-inactivation is common in the general female population. European Journal of Human Genetics. March 2019, 27 (3): 455–465. ISSN 1476-5438. PMC 6460563可免费查阅. PMID 30552425. doi:10.1038/s41431-018-0291-3可免费查阅 (英语). 
  7. ^ GP Notebook - X-linked recessive disorders 互联网档案馆存档,存档日期2011-06-13. Retrieved on 5 Mars, 2009
  8. ^ OMIM Color Blindness, Deutan Series; CBD. nih.gov. [3 May 2018]. (原始内容存档于29 September 2009). 
  9. ^ Michael Price. Case Closed: Famous Royals Suffered From Hemophilia. ScienceNOW Daily News. AAAS. 8 October 2009 [9 October 2009]. (原始内容存档于20 October 2013). 
  10. ^ Rogaev, Evgeny I.; Grigorenko, Anastasia P.; Faskhutdinova, Gulnaz; Kittler, Ellen L. W.; Moliaka, Yuri K. Genotype Analysis Identifies the Cause of the 'Royal Disease'. Science. 2009, 326 (5954): 817. Bibcode:2009Sci...326..817R. PMID 19815722. S2CID 206522975. doi:10.1126/science.1180660. 
  11. ^ "Hemophilia B". 互联网档案馆存档,存档日期2007-12-01. National Hemophilia Foundation.
  12. ^ Carlo Gelmetti; Caputo, Ruggero. Pediatric Dermatology and Dermatopathology: A Concise Atlas. T&F STM. 2002: 160. ISBN 1-84184-120-X. 
  13. ^ X-linked Agammaglobulinemia: Immunodeficiency Disorders: Merck Manual Professional. [2008-03-01]. (原始内容存档于2008-02-18). 
  14. ^ Diseases Treated at St. Jude. stjude.org. [3 May 2018]. (原始内容存档于15 August 2007). 
  15. ^ Favism - Doctor. patient.info. [3 May 2018]. (原始内容存档于21 November 2017). 

外部链接

[编辑]

[Female X-linked disorders]