福山型先天性肌营养不良基因型和表型分析  

Analysis of genotype and phenotype in Fukuyama congenital muscular dystrophy

作　　者：王治平[1] 齊藤加代子 大泽真木子 

机构地区：[1]上海第二医科大学附属新华医院儿内科,200092 [2]东京女子医科大学小儿科教室

出　　处：《中华医学遗传学杂志》2000年第5期305-308,共4页Chinese Journal of Medical Genetics

摘　　要：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Objective To do a genetic study of clinically diagnosed Fukuyama congenital muscular dystrophy (FCMD) by means of haplotype analysis, and to study the correlation of genotype and phenotype in FCMD. Methods Six closest available informative markers for each of the mapped FCMD genes were tested in 100 Japanese families with at least one affected patient. Results Seventy seven percent of FCMD bearing chromosomes had an ancestral founder haplotype(138 192 147 183) and 10 chromosomes had a second founder haplotype(130 201 157 183). Thirty five(69%) typical, and 20(77%) mild, while 5(19%) severe cases were homozygous for the founder haplotype. On the contrary, 13(25%) typical, 5(19%) mild, and 15(65%) severe cases were heterozygous. Eight of 10 that were heterozygous for the second founder haplotype had the severe phenotypes. Two typical cases with severe brain and ophthalmologic anomalies were also heterozygous for the second founder haplotype. Conclusion Homozygosity was associated with the typical and mild phenotypes, while compound heterozygosity was related to the severe phenotype. The value of the second founder haplotype in predicting disease severity was suggested.

关 键 词：福山型先天性肌营养不良 单体型 基因型 表型 

分 类 号：R394[医药卫生—医学遗传学]