多发性骨软骨瘤的分子诊断与产前诊断  

Molecular diagnosis and prenatal diagnosis in a hereditary multiple osteochondromas family

作　　者：汤莹[1] 郑德柱[1] 郭小艳[1] 廖娟[1] 兰风华[1] 

机构地区：[1]南京军区福州总医院遗传病分子诊断中心,福州350025

出　　处：《北京大学学报（医学版）》2013年第6期906-909,共4页Journal of Peking University:Health Sciences

摘　　要：目的:鉴定一个多发性骨软骨瘤(hereditary multiple osteochondromas,HMO)家系的致病基因突变,并对该家系中的1个高危胎儿进行产前诊断。方法:采用PCR反应和扩增产物直接测序技术对家系先证者及其家系成员EXT1基因进行序列分析,确定先证者的基因型后取羊水进行产前诊断。结果:先证者EXT1基因存在1476-1477delTC杂合缺失突变,其父亲部分细胞存在相同突变;先证者母亲及其父亲的11名同胞未见EXT1基因突变。胎儿携带有1476-1477delTC杂合缺失突变。结论:建立了对HMO进行基因诊断和产前诊断的方法,并成功应用于一个HMO家系。To identify the mutation in the disease gene and provide prenatal diagnosis for a hereditary multiple osteochondromas （HMO） family. Methods： The exons of EXT1 gene in the proband with HMO and his family members were amplified by PCR. The products were analyzed by direct sequencing. Prenatal genetic diagnosis was performed by amniocentesis sampling after genotyping the proband. Results： In the family, the affected proband was heterozygous of the mutation of 1476_1477delTC in the EXT1 gene, and the proband’s father carried the same mutation in part of his somatic cells. No mutation was found in the EXT1 gene of the proband’s mother and other 11 siblings of his father. Conclusion： Methods for molecular diagnosis and prenatal diagnosis of HMO were established and applied to a family of HMO.

关 键 词：外生骨疣 多发性遗传性 EXT1基因 突变 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]