对曼尼托巴门诺派和不列颠哥伦比亚原住民家族中X连锁腭裂和舌系带过短的连锁分析。

Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Mennonite and British Columbia Native kindreds.

作者信息

Gorski S M, Adams K J, Birch P H, Chodirker B N, Greenberg C R, Goodfellow P J

机构信息

Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

出版信息

Hum Genet. 1994 Aug;94(2):141-8. doi: 10.1007/BF00202859.

DOI:10.1007/BF00202859

PMID:8045560

Abstract

A locus (CPX) responsible for X-linked cleft palate and ankyloglossia was previously mapped to the proximal long arm of the X chromosome through DNA marker linkage studies in two large kindred: an Icelandic family and a British Columbia (B.C.) Native family. In this study, additional linkage analyses have been performed in the B.C. family and in a newly identified Manitoba Mennonite family with X-linked cleft palate and ankyloglossia. The Manitoba CPX locus maps to the same region as Icelandic and B.C. CPX. Two-point disease-to-marker linkage analyses in the Manitoba family indicate a maximum lod score (Zmax) between CPX and DXS349 (Zmax = 3.33 at theta = 0.0). In multipoint linkage analysis, combined data from the B.C. and Manitoba families suggest that the most likely location for CPX is at DXS447 in Xq21.1 (multipoint Z = 13.5). The support interval for CPX at DXS447 extends approximately from PGK1 to DXYS1 and includes a newly isolated polymorphic locus DXS1109.

摘要

一个与X连锁腭裂和舌系带过短相关的基因座（CPX）先前通过对两个大家族（一个冰岛家族和一个不列颠哥伦比亚省原住民家族）进行DNA标记连锁研究，被定位到X染色体长臂近端。在本研究中，对不列颠哥伦比亚省家族以及一个新发现的患有X连锁腭裂和舌系带过短的曼尼托巴门诺派家族进行了额外的连锁分析。曼尼托巴CPX基因座与冰岛和不列颠哥伦比亚省的CPX位于同一区域。对曼尼托巴家族进行的两点疾病-标记连锁分析表明，CPX与DXS349之间的最大对数优势分数（Zmax）为3.33（在θ = 0.0时）。在多点连锁分析中，来自不列颠哥伦比亚省和曼尼托巴家族的综合数据表明，CPX最可能的位置在Xq21.1的DXS447处（多点Z = 13.5）。DXS447处CPX的支持区间大约从PGK1延伸至DXYS1，并包括一个新分离的多态性基因座DXS1109。