A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolutionary consideration.
A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolutionary consideration.
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对比利时、德国、波兰、捷克共和国、匈牙利、保加利亚、西班牙、土耳其和日本的新生儿群体进行的 G985 变异等位基因调查，并在中链酰基辅酶 A 脱氢酶基因位点进行单倍型分析：临床和进化考虑。
DOI：
10.1203/00006450-199704001-01213
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发表时间：
1997
影响因子：
3.6
通讯作者：
Michinori Ito
中科院分区：
文献类型：
--
作者：
Kay Tanaka;N. Gregersen;A. Ribes;Jinkwan Kim;S. Kolvraa;V. Winter;H. Eiberg;G. Martinez;T. Deufel;B. Leifert;R. Santer;B. François;E. Pronicka;A. László;S. Kmoch;I. Kremensky;L. Kalaydjicva;I. Ozalp;Michinori Ito
中链酰辅酶A脱氢酶(MCAD)缺乏症是脂肪酸代谢的先天缺陷。它是高加索儿童中最常见的遗传代谢疾病之一。在一系列广泛的回顾研究中，G985等位基因代表了MCAD基因所有变异等位基因的90%。为了研究G985等位基因的分布，对来自以下国家的新生儿血液样本进行了检测；来自德国的3000份(1/116)。比利时各1000人(1/77)。波兰(1/98)、捷克(1/240)。匈牙利(1/168)、保加利亚(1/91)、西班牙(1/141)。土耳其(1/216)，日本500人(无)。频率显示在括号中。对1例纯合子和57例杂合子的G985等位基因进行Iaq1和GT重复序列分析。结果表明，在已知的10个单倍型中，只有1个与G985突变有关，这表明G985起源于单一的祖先来源。我们对这些国家和之前研究的其他九个欧洲国家的G985频率进行了汇编。G985在从俄罗斯到保加利亚的东部地区以及西欧和中欧所有北部国家的分布较高，但在西欧和中欧的南部较低。巴斯克人的发病率似乎很低。这种分布模式和所有G985等位基因都属于单一单倍型的事实表明，G985突变发生得晚于CFTR的增量F508突变，可能发生在新石器时代或更晚的时期，并由讲印欧语的人带入欧洲。G985等位基因在全欧洲的分布，包括很少发现MCAD缺乏症患者的斯拉夫国家，表明提高对这种疾病的认识水平的重要性。
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an inborn error of fatty acid metabolism. It is one of the most frequent genetic metabolic disorders among Caucasian children. The G985 allele represented 90% of all the variant alleles of the MCAD gene in an extensive series of retrospective studies. To study the distribution of the G985 allele, newborn blood samples from the following countries were tested; 3000 from Germany (1/116). 1000 each from Belgium (1/77). Poland (1/98), Czech Republic (1/240). Hungary (1/168), Bulgaria (1/91), Spain (1/141). Turkey (1/216), and 500 from Japan (none). The frequency is shown in parentheses. The haplotype of G985 alleles in 1 homozygote and 57 heterozygote samples were then analyzed using two intragenic MCAD gene polymorphisms (Iaq1 and GT-repeat). The result indicated that only 1 of the 10 known haplotypes was associated with the G985 mutation, suggesting that G985 was derived originally from a single ancestral source. We made a compilation of the G985 frequencies in these countries and those in nine other European countries studied previously. The G985 distribution was high in the area stretching from Russia to Bulgaria in the east and in all northern countries in western and middle Europe, but low in the southern part of western and middle Europe. The incidence among ethnic Basques appeared to be low. This distribution pattern and the fact that all G985 alleles belong to a single haplotype suggest that G985 mutation occurred later than the delta F508 mutation of the CFTR, possibly in the neolithic or in a later period, and was brought into Europe by IndoEuropean-speaking people. The panEuropean distribution of the G985 allele, including Slavic countries from which patients with MCAD deficiency have rarely been detected, indicates the importance of raising the level of awareness of this disease.