A NEW MUTATION IN THE PROTEOLIPID PROTEIN(PLP) GENE IN A GERMAN FAMILY WITH PELIZAEUS-MERZBACHER DISEASE

被引：45

作者：

PRATT, VM

TROFATTER, JA

SCHINZEL, A

DLOUHY, SR

CONNEALLY, PM

HODES, ME

机构：

[1] INDIANA UNIV,SCH MED,DEPT MED GENET,975 W WALNUT ST,INDIANAPOLIS,IN 46202

[2] UNIV ZURICH,INST MED GENET,CH-8006 ZURICH,SWITZERLAND

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 38卷 / 01期

关键词：

PELIZAEUS-MERZBACHER DISEASE; X-CHROMOSOME; MISSENSE MUTATION; PROTEOLIPID PROTEIN;

D O I：

10.1002/ajmg.1320380129

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A c-to-T transition in exon 4 of the PLP gene was found in 2 affected males and two obligate carriers in a German family with Pelizaeus-Merzbacher disease. The mutation, which causes loss of an HphI site and changes amino acid 155 from threonine to isoleucine, was absent from 108 normal chromosomes. There are 5 concordances and 1 discrepancy between these results and those obtained by magnetic resonance imaging in this family.

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页码：136 / 139

页数：4

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