胸腹综合征（TAS）基因在Xq25 - 26的连锁定位。

Linkage localization of the thoraco-abdominal syndrome (TAS) gene to Xq25-26.

作者信息

Parvari R, Weinstein Y, Ehrlich S, Steinitz M, Carmi R

机构信息

Clinical Genetics Unit, Soroka Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

出版信息

Am J Med Genet. 1994 Feb 15;49(4):431-4. doi: 10.1002/ajmg.1320490416.

DOI:10.1002/ajmg.1320490416

PMID:7909197

Abstract

The thoraco-abdominal syndrome (TAS) presents a closure defect confined to the ventral midline, manifested as ventral hernia of various degrees in all affected individuals and antero-lateral diaphragmatic defect manifested almost exclusively in affected males. The syndrome is inherited as an X-linked dominant trait affecting blastogenesis (XLB mutation). We studied 27 members of the TAS family for linkage on the X chromosome. The best lod score of 5.5 at theta 0.04 was found for the HPRT locus on Xq26.1. A multilocus lod score of 12.4 was observed when the linkage analysis utilized additional markers in Xq25-26.

摘要

胸腹综合征（TAS）表现为局限于腹侧中线的闭合缺陷，在所有受影响个体中表现为不同程度的腹侧疝，而前外侧膈肌缺陷几乎仅在受影响男性中出现。该综合征作为一种影响胚胎发育的X连锁显性性状（XLB突变）遗传。我们研究了TAS家族的27名成员在X染色体上的连锁情况。在Xq26.1上的次黄嘌呤磷酸核糖转移酶（HPRT）基因座，在θ为0.04时发现最佳连锁值为5.5。当连锁分析使用Xq25 - 26中的其他标记时，观察到多位点连锁值为12.4。