PRENATAL-DIAGNOSIS OF HETEROZYGOUS DEFICIENCY OF THE 2ND COMPONENT OF COMPLEMENT

被引:2
|
作者
SULLIVAN, KE [1 ]
WINKELSTEIN, JA [1 ]
机构
[1] JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,DIV ALLERGY & IMMUNOL,BALTIMORE,MD 21205
关键词
D O I
10.1128/CDLI.1.5.606-607.1994
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
Genetically determined C2 deficiency predisposes an individual to recurrent and invasive bacterial infections as well as a variety of rheumatic diseases. Most C2-deficient individuals carry the same 28-bp deletion in the sixth exon of the C2 gene. The present article reports the first prenatal analysis of a sibling of a C2-deficient patient; the sibling was found to be a heterozygous carrier of the 28-bp deletion of C2.
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页码:606 / 607
页数:2
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