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本文对2例Wolf-Hirschhorn综合征的病人及其双亲进行了研究。细胞遗传学分析结果表明:一个病人(Lan,女孩)是4p16.1的中间缺失;另一个病人(Val,男孩)断裂点在4 p15.3。病人的双亲都有正常核型。用不同的限制性内切酶消化他们的DNA,凝胶电泳后分析结果表明:病人Val用F5.53探针检测等位基因为杂合子。用H5.52和pBS674E-D探针杂交在远端区显示半合性,表明缺乏一个母亲遗传的等位基因。另一个病人Lan用F5.53探针杂交显示丢失了父亲的等位基因,证明了这个部位
In this paper, two patients with Wolf-Hirschhorn syndrome and their parents were studied. Cytogenetic analysis showed that one patient (Lan, girl) was the middle deletion of 4p16.1; the other patient (Val, boy) had a breakpoint of 4 p15.3. The patient’s parents have normal karyotypes. Their DNAs were digested with different restriction enzymes. The results of gel electrophoresis analysis showed that Val was detected by F5.53 probe as allelic heterozygote. Hybridization with the H5.52 and pBS674E-D probes showed half-life in the distal region, indicating the absence of a maternal genetic allele. Another patient Lan with the F5.53 probe hybrid showed that the father lost the allele, proving that this site