一个先天性眼外肌纤维化中国家系的基因定位

Linkage analysis of congenital fibrosis of the extraocular muscles in a Chinese family

目的对一个常染色体显性遗传的先天性眼外肌纤维化(congenial fibrosis of the extraocular muscles,CFEOM)的中国家系进行基因定位。方法收集一个CFEOM中国家系,对该家系成员进行详细眼科检查,确诊为CFEOM。采集外周血5ml并抽提DNA,采用多个已知遗传标记与该家系致病基因位点进行连锁分析。结果在标记位点D12S345、D12S331及D12S1048处,lod值均大于1,其中在标记位点D12S331处获得最大lod值,lod=2.24(θ=0)。结论研究提示遗传位点与标记位点D12S345、D12S331和D12S1048存在连锁。其基因型与位于12号染色体上12p11.2-q12的CFEOM1的基因型一致。

Objective To identify the gene for autosomal dominant congenital fibrosis of the extraocular muscles （CFEOM） in a Chinese family. Methods A Chinese family was studied and genomic DNA was extracted from the peripheral blood of 14 family members. A two-point linkage analysis between the known markers and disease locus was performed. Results Linkage analysis showed the lod score for D12S345, D12S331 and D12S1048 was between 1 and 3. The maximum lod score reached 2.24 at marker D12S331 at recombination rates of 0.000 under an autosomal dominant model with 100% penetrance. Conclusion The family＇s phenotype was consistent with linkage to the CFEOM1 locus on chromosome 12p1 1.2-q12. It may be linked to D12S345, D12S331 and D12S1048.