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目的 通过单体型分析 ,对临床诊断为福山型先天性肌营养不良 (Fukuyama congenitalmuscular dystrophy,FCMD)的患者进行基因诊断 ,并探讨 FCMD基因型和表型之间的关系。方法 应用D9S30 6、D9S2 1 0 5、D9S2 1 70、D9S2 1 71、D9S2 1 0 7、D9S1 72等 6个微卫星 DNA,经聚合酶链反应 (PCR) ,扩增片段长度多态性 -聚丙烯酰胺凝胶电泳 ,对 1 0 0个日本 FCMD家系 2 76名成员的 DNA进行单体型分析 ,并根据患者临床资料 ,进行 FCMD亚型分型。结果 祖先建立者单体型 (1 38- 1 92 - 1 47- 1 83)和第 2建立者单体型 (1 30 - 2 0 1 - 1 5 7- 1 83)的携带率呈高度连锁不平衡 ;6 9%的典型病例及 77%的轻型病例为祖先建立者单体型的纯合子 ,6 5 %的重型病例为杂合子 ;第 2建立者单体型杂合子 1 0例中 8例为重型 ,2例虽为典型 ,但伴有严重脑和眼部畸形。结论 祖先建立者单体型纯合子与典型和轻型表型有关 ;第 2建立者单体型杂合子与重型表型相关
Objective To investigate the genetic relationship between FCMD genotype and phenotype in patients diagnosed as Fukuyama congenital muscular dystrophy (FCMD) by haplotype analysis. Methods Six microsatellite DNAs, D9S30 6, D9S2 105, D9S2 1 70, D9S2 1 71, D9S2 1 0 7 and D9S1 72, were amplified by polymerase chain reaction (PCR) Acrylamide gel electrophoresis. DNA of 2 76 members of 100 Japanese families with FCMD were analyzed by haplotype. According to the clinical data of patients, FCMD subtypes were typed. Results The ancestor founder haplotype (381-922-1 47-183) and the second founder haplotype (130-301-157-183) were highly linked Balance; 6 9% of typical cases and 77% of light cases of ancestor founder haplotype homozygous, 65% of the cases of heavy cases heterozygous; the second founder haplotype heterozygous 10 cases, 8 cases For the heavy, although two cases are typical, but with severe brain and eye deformities. Conclusion Ancestral founder haplotype homozygous with typical and light phenotype; the second founder haplotype heterozygous and heavy phenotype