Congenital generalized hypertrichosis (CGH) maps to Xq26-q27
- Baylor College of Medicine, Houston, TX (United States); and others
CGH is a rare, X-linked dominant trait previously described by one of us in a large, five-generational Mexican family with 28 affected individuals. Family history and clinical examination reveal that excessive hair is present at the patient`s birth becoming more dense during the first year of life. In males the hair eventually covers the face and upper portion of the trunk. The affected women have transmitted the trait to both male and female offspring, while one affected male has transmitted the trait to all three female offspring but not to his nine sons. In addition, manifestations are more severe in males than females, who show an uneven pattern of excessive hair distribution, possibly due to the random nature of X-inactivation. The rarity of this trait and the apparently extremely low rate of mutation of the gene led the authors to hypothesize that this condition was the result of a {open_quotes}back{close_quotes} mutation, leading to reactivation of an {open_quotes}atavistic{close_quotes} gene. Clinical examination, blood collection, and establishment of lymphoblastoid cell lines have been completed for the majority of the members of the family available, including affected and unaffected males and females. Sixteen meioses were screened using several polymorphic microsatellite markers distributed along the X-chromosome. The locus DXS1211 did not show recombination events. Two-point linkage analysis yielded a maximum LOD score of 3.08 at theta of zero. An updated map of the X chromosome localizes this marker at Xq16-q27. The identification of the CGH gene will provide insight into development of hair and allow testing of the hypothesis of {open_quotes}atavism{close_quotes}.
- OSTI ID:
- 134012
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0747
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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