PELIZAEUS-MERZBACHER DISEASE - CLINICAL AND DNA-LINKAGE STUDY OF AN EXTENDED FAMILY

被引：4

作者：

JOHNSON, VP

CARPENTER, NJ

KELTS, KA

机构：

[1] UNIV S DAKOTA,SCH MED,DEPT PEDIAT,VERMILLION,SD 57069

[2] UNIV S DAKOTA,SCH MED,DEPT PEDIAT,SIOUX FALLS,SD

[3] CHILDRENS MED CTR,CHAPMAN RES INST,TULSA,OK

[4] UNIV S DAKOTA,SCH MED,DEPT LAB MED,VERMILLION,SD 57069

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 41卷 / 03期

关键词：

DNA-LINKAGE ANALYSIS; X-LINKAGE; CARRIER DETECTION;

D O I：

10.1002/ajmg.1320410318

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a 5-generation family of 6 individuals with Pelizaeus-Merzbacher disease, Type I. DNA linkage study was done to establish carrier status. Two loci, DXS162 and DXYS1, were informative in this family for carrier determination. The highest lod score is that for PMD-DXYS1 (Z = 1.421 at theta = 0). The carrier probability can only be defined as likely or unlikely in the absence of an established recombination frequency.

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页码：355 / 361

页数：7

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