Kølvraa S, Gregersen N, Blakemore A I, Schneidermann A K, Winter V, Andresen B S, Curtis D, Engel P C, Pricille D, Rhead W
Institute of Human Genetics, University of Aarhus, Denmark.
Hum Genet. 1991 Aug;87(4):425-8. doi: 10.1007/BF00197161.
RFLP haplotypes in the region containing the medium-chain acyl-CoA dehydrogenase (MCAD) gene on chromosome 1 have been determined in patients with MCAD deficiency. The RFLPs were detected after digestion of patient DNA with the enzymes BanII. PstI and TaqI and with an MCAD cDNA-clone as a probe. Of 32 disease-causing alleles studied, 31 possessed the previously published A----G point-mutation at position 985 of the cDNA. This mutation has been shown to result in inactivity of the MCAD enzyme. In at least 30 of the 31 alleles carrying this G985 mutation a specific RFLP haplotype was present. In contrast, the same haplotype was present in only 23% of normal alleles (P less than or equal to 3.4 x 10(-18)). These findings are consistent with the existence of a pronounced founder effect, possibly combined with biological and/or sampling selection.
已在中链酰基辅酶A脱氢酶（MCAD）缺乏症患者中确定了1号染色体上包含MCAD基因区域的限制性片段长度多态性（RFLP）单倍型。在用BanII、PstI和TaqI酶消化患者DNA并以MCAD cDNA克隆作为探针后，检测到了RFLP。在研究的32个致病等位基因中，31个在cDNA的985位具有先前发表的A→G点突变。该突变已被证明会导致MCAD酶失活。在携带这种G985突变的31个等位基因中，至少30个存在特定的RFLP单倍型。相比之下，相同的单倍型仅存在于23%的正常等位基因中（P≤3.4×10⁻¹⁸）。这些发现与明显的奠基者效应的存在一致，可能与生物学和/或抽样选择相结合。
