通过连锁分析将X连锁眼部白化病基因（OA1）定位在DXS278/DXS237和DXS143/DXS16之间。

Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis.

作者信息

Bergen A A, Samanns C, Van Dorp D B, Ferguson-Smith M A, Gal A, Bleeker-Wagemakers E M

机构信息

The Netherlands Ophthalmic Research Institute, Amsterdam.

出版信息

Ophthalmic Paediatr Genet. 1990 Sep;11(3):165-70. doi: 10.3109/13816819009020975.

DOI:10.3109/13816819009020975

PMID:2280973

Abstract

Linkage analysis was performed in six families segregating for X-linked ocular albinism of the Nettleship-Falls type using four polymorphic DNA markers from the distal Xp. Linkage was found between the disease locus (OA1) and the loci DXS237 (theta max = 0.06, Zmax = 2.82), DXS278 (theta max = 0.03, Zmax = 5.27) and DXS16 (theta max = 0.10, Zmax = 2.33). The analysis of multiple informative meioses suggests that OA1 maps between DXS278/DXS237 and DXS143/DXS16. Multipoint linkage analysis slightly favours the order DXS278/DXS237-OA1-DXS16. These data refine the genetic localization of OA1 and may be useful for carrier detection in X-linked ocular albinism by DNA analysis.

摘要

利用来自Xp远端的四个多态性DNA标记，对六个患有奈特尔斯希普 - 福尔斯型X连锁眼白化病的家系进行了连锁分析。在疾病位点（OA1）与DXS237位点（最大重组率θ = 0.06，最大Z值 = 2.82）、DXS278位点（最大重组率θ = 0.03，最大Z值 = 5.27）和DXS16位点（最大重组率θ = 0.10，最大Z值 = 2.33）之间发现了连锁关系。对多个信息性减数分裂的分析表明，OA1基因座位于DXS278/DXS237和DXS143/DXS16之间。多点连锁分析略微倾向于DXS278/DXS237 - OA1 - DXS16的顺序。这些数据完善了OA1的基因定位，可能有助于通过DNA分析对X连锁眼白化病进行携带者检测。