门克斯X连锁病：杂合子中的两个克隆细胞群体。
Menkes X linked disease: two clonal cell populations in heterozygotes.
作者信息
Horn N, Mooy P, McGuire V M
出版信息
J Med Genet. 1980 Aug;17(4):262-6. doi: 10.1136/jmg.17.4.262.
Abstract
The 64Cu incorporation into fibroblast clones obtained from three obligate and three suspected Menkes disease heterozygotes was studied. For each obligate heterozygote, two clonal cell populations were observed, one with a Menkes phenotype and one with a normal phenotype, as predicted by the Lyon hypothesis. The cloning results suggested a heterozygous state in two of the suspected carriers. The theoretical and practical limitation of the cloning method for identification of carriers of X linked diseases are discussed.
摘要
研究了从三名典型和三名疑似门克斯病杂合子获得的成纤维细胞克隆中铜-64的掺入情况。对于每一名典型杂合子，观察到两个克隆细胞群体，正如莱昂假说所预测的，一个具有门克斯病表型，另一个具有正常表型。克隆结果表明两名疑似携带者呈杂合状态。讨论了用于鉴定X连锁疾病携带者的克隆方法的理论和实际局限性。
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