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在法国，大多数中链酰基辅酶A脱氢酶缺乏症病例未被检测出来。

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

作者信息

Fromenty B, Mansouri A, Bonnefont J P, Courtois F, Munnich A, Rabier D

机构信息

Hôpital Beaujon, Clichy, France.

出版信息

Hum Genet. 1996 Mar;97(3):367-8. doi: 10.1007/BF02185775.

DOI:10.1007/BF02185775
PMID:8786085
Abstract

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.

摘要

对来自巴黎地区的414名法国献血者的DNA进行了评估，以检测导致大多数常染色体隐性中链酰基辅酶A脱氢酶（MCAD）缺乏症的A985G突变。突变基因频率平均为1/140，预测突变纯合子频率为1/19000。MCAD预期病例数（每年42例）与记录病例数（每年6例）之间的差异表明，在法国，大多数MCAD缺乏症患者未被检测到。

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本文引用的文献

1
The frequency of a disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase in sudden infant death syndrome.婴儿猝死综合征中编码中链酰基辅酶A脱氢酶的基因致病点突变的频率。
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Scottish frequency of the common G985 mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene and the role of MCAD deficiency in sudden infant death syndrome (SIDS).中链酰基辅酶A脱氢酶（MCAD）基因常见G985突变在苏格兰的发生频率及MCAD缺乏症在婴儿猝死综合征（SIDS）中的作用。
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Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe.
中链酰基辅酶A脱氢酶（MCAD）缺乏症：常见突变G985（K304E）受到来自西北欧的强烈奠基者效应影响。
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Is genotyping useful for the screening of medium-chain acyl-CoA dehydrogenase deficiency in France?
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Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.遗传性中链酰基辅酶A脱氢酶缺乏症的分子特征
Proc Natl Acad Sci U S A. 1990 Dec;87(23):9236-40. doi: 10.1073/pnas.87.23.9236.
6
Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.对55例中链酰基辅酶A脱氢酶（MCAD）缺乏症患者中一种常见突变（985A到G转换）的分子调查以及五个罕见突变的鉴定。
Am J Hum Genet. 1991 Dec;49(6):1280-91.
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Localisation of RFLPs of the medium chain acyl-CoA dehydrogenase gene.
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Frequency of the G985 MCAD mutation in the general population.
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