Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France

被引：18

作者：

Fromenty, B

Mansouri, A

Bonnefont, JP

Courtois, F

Munnich, A

Rabier, D

Pessayre, D

机构：

[1] HOP NECKER ENFANTS MALAD,INSERM U393,F-75743 PARIS 15,FRANCE

[2] HOP BEAUJON,INSERM U24,F-92118 CLICHY,FRANCE

[3] HOP BEAUJON,CTR TRANSFUS SANGUINE,F-92118 CLICHY,FRANCE

来源：

HUMAN GENETICS | 1996年 / 97卷 / 03期

关键词：

D O I：

10.1007/s004390050054

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

DNA from 414 French blood donors from the Paris area was assessed for the A985G mutation responsible for most cases of autosomal recessive medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. The mutant gene frequency averaged 1/140, predicting a frequency of mutant homozygotes of 1/19 000. Discrepancy between the numbers of expected (42 per year) and recorded cases of MCAD (6 per year) suggests that most MCAD-deficient patients escape detection in France.

引用

页码：367 / 368

页数：2

共 14 条

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