根据患者的临床体征以及家系的遗传方式, 文章对一个中国汉族皮肤和粘膜多发静脉血管畸形(Mucocutaneous venous malformations, VMCM)家系进行了临床诊断。家系中连续5代都有患者, 男女患者比例约1:1, 为常染色体显性遗传方式。患者皮肤、口腔粘膜、舌头以及四肢等处可见蓝紫色、突出皮面、质硬、压之不褪色的瘤体, 组织病理学显示, 静脉血管的管腔极不规则, 部分管壁存在缺失, 部分管壁明显增厚。患者无消化道出血史, 无心脏和脑部异常, 临床诊断为VMCM。为了进行致病基因的定位和单倍型分析, 采集了家族中26人的外周血并提取基因组DNA, 并设计微卫星引物进行了连锁和单倍型分析。两点间连锁分析的结果表明, 在D9S1121处有最大LOD值为 Z=5.38(θ=0.00), 单倍型分析的结果提示, 致病基因定位于9号染色体短臂上D9S1121和D9S161之间约 7 cM的范围内。文章首次报道了中国汉族VMCM家系, 其致病基因定位定位于9p, 与已报道的欧洲家系相同。用4个微卫星标记D9S1121、 D9S 169、D9S161和D9S248确定了该家系致病基因的单倍型, 为不同种族和人群VMCM疾病相关研究提供参考。
A Chinese Han ethnic family with mucocutaneous venous malformations (VMCM) was investigated. This family has autosomal dominantly inherited VMCM in five generations, and the offspring has a 50% risk of this inherited disorder. Affected individuals have small, spongy, and multiple vascular lesions, which often locate in the skin, oral mucosa, and upper and lower extremities. None of the family members had gastrointestinal bleeding, central nervous system in-volvement and cardiac defects. Pathological analysis showed that the veins have irregular vascular space and walls with variable thickness. All phenotypes of the patients displayed the basic characters of VMCM. To analyze the genetic locus and haplotype, genomic DNA of 26 family members was obtained from peripheral leukocytes, and the linkage analysis and haplotypes analysis were performed using microsatellites markers. The results of two-point linkage analysis and haplotype analysis showed that the disease-causing gene located within a 7 cM region between D9S1121 and D9S161 on the short arm of chromosome 9. The study firstly reported the Chinese family with VMCM, which disease-causing gene is located in 9p, consistent with western VMCM families reported. Four flanking markers, D9S1121, D9S169, D9S16 and D9S248, were used to define the linkage haplotypes in the family, which can provide useful in-formaion for researchers to study VMCM in different racial background.
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