一项关于两个可能与Xq28连锁的色素失禁症家族中X染色体活性的研究。

A study of X chromosome activity in two incontinentia pigmenti families with probable linkage to Xq28.

作者信息

Curtis A R, Lindsay S, Boye E, Clarke A J, Landy S J, Bhattacharya S S

机构信息

Department of Human Genetics, University of Newcastle upon Tyne, UK.

出版信息

Eur J Hum Genet. 1994;2(1):51-8. doi: 10.1159/000472341.

DOI:10.1159/000472341

PMID:7913867

Abstract

Linkage analysis was carried out in two British families with incontinentia pigmenti (IP). Both showed exclusion at several markers in Xp and proximal Xq and showed probable linkage to the DXS52 and F8C loci in Xq28. This suggests that in these families the disease locus is IP2. Using a method based on the androgen receptor gene, and confirming the results where possible at the PGK-1 and DXS255 loci, it was shown that in affected females the maternally inherited X chromosome, where it could be identified, is inactive in the majority of cells.

摘要

对两个患有色素失禁症（IP）的英国家庭进行了连锁分析。两者在Xp和近端Xq的几个标记处均显示排除，并显示与Xq28中的DXS52和F8C基因座可能存在连锁。这表明在这些家庭中，疾病基因座是IP2。使用基于雄激素受体基因的方法，并在可能的情况下在PGK - 1和DXS255基因座处确认结果，结果表明在受影响的女性中，在多数细胞中，可识别的母系遗传X染色体是失活的。