PRENATAL-DIAGNOSIS OF HEREDITARY AMYLOIDOSIS IN A PORTUGUESE FAMILY

被引：6
|
作者：
MORRIS, M
NICHOLS, W
BENSON, M
机构：
[1] INDIANA UNIV,SCH MED,DEPT MED GENET,INDIANAPOLIS,IN 46202
[2] RICHARD L ROUDEBUSH VET ADM MED CTR,INDIANAPOLIS,IN
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 39卷 / 01期
关键词：
AMYLOIDOSIS; FAMILIAL AMYLOIDOTIC POLYNEUROPATHY; PREALBUMIN; POLYMERASE CHAIN REACTION; CHORIONIC VILLUS SAMPLING; PRENATAL DIAGNOSIS;
D O I：
10.1002/ajmg.1320390128
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Portuguese-type amyloidosis is an autosomal dominant condition caused by a point mutation of the prealbumin (transthyretin) gene. The mutation can be detected directly by the presence of a restriction site for Nsil. We report the first prenatal diagnosis for this condition, performed in the first trimester by chorionic villus sampling, polymerase chain reaction, and restriction enzyme digestion.
引用
收藏
页码：123 / 124
页数：2
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