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- W4254572743 abstract "A gene causing Dyskeratosis Congenita (DC), a rare genetic disorder associated with bone marrow failure, has been mapped to chromosome Xq28, but autosomal inheritance of the disease has also been reported. We have investigated the pattern of X-inactivation in the peripheral blood of carriers of DC using the methylation-sensitive Hpa II site in the androgen receptor gene (HUMARA). In 5 different families in which the inheritance of DC appears to be X-linked, all 16 carriers showed skewed X-inactivation patterns. These cases indicate that, in the hematopoiesis of heterozygous females, cells expressing the normal DC allele have a growth advantage over cells that express the mutant allele. In 7 other families with sporadic cases of DC or with an uncertain pattern of inheritance, both skewed and normal patterns of X-inactivation were observed. In these families or where crucial family members are unavailable, the study of X-inactivation patterns will add to linkage analysis in providing information about carrier status." @default.
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- W4254572743 date "1997-09-15" @default.
- W4254572743 modified "2023-09-30" @default.
- W4254572743 title "Skewed X-Inactivation in Carriers of X-Linked Dyskeratosis Congenita" @default.
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- W4254572743 doi "https://doi.org/10.1182/blood.v90.6.2213.2213_2213_2216" @default.
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