LINKAGE ANALYSIS IN A LARGE FAMILY WITH NONSPECIFIC X-LINKED MENTAL-RETARDATION

被引：15

作者：

GLASS, IA

WHITE, EM

POPE, MJ

PIRRIT, LA

COCKBURN, F

CONNOR, JM

机构：

[1] UNIV GLASGOW,ROYAL HOSP SICK CHILDREN,DEPT MED GENET,GLASGOW G12 8QQ,SCOTLAND

[2] ROYAL HOSP SICK CHILDREN,DEPT CHILD HLTH,GLASGOW G3 8SJ,SCOTLAND

[3] ROYAL HOSP SICK CHILDREN,FRASER ALLANDER ASSESSMENT UNIT,GLASGOW G3 8SJ,SCOTLAND

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 38卷 / 2-3期

关键词：

X-CHROMOSOME; XLMR; FRAGILE-X;

D O I：

10.1002/ajmg.1320380214

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a large 5-generation family with "nonspecific" X-linked mental retardation. Nine living affected males have an IQ between 50 and 70 but have normal stature, facial appearance, and testicular volumes and no other abnormalities. Two obligate carrier females had borderline intellectual abilities and visual-psychomotor difficulties similar to those seen in affected males. Results of chromosome studies, including fragile X, were normal in males and females. Linkage analysis was undertaken, with 19 X-specific chromosomal restriction fragment length polymorphisms (RFLPs), giving a maximal LOD score of 1.60 at a 0.10 recombination fraction for F9, suggesting a localization to distal Xq for the mutant gene in this family.

引用

页码：240 / 243

页数：4

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