一个先天性白内障家系基因突变热点分析报告

目的：对一个来自广东兴宁的四代先天性白内障家系进行常染色体显性基因突变热点的分析，了解这个家系在热点上是否有相应的改变。方法：该家系19名成员(包括患者8人，非患者11人)知情同意进入本研究。8例患者在中山眼科中心接受全面的眼部及全身检查．以排除存在白内障以外眼部及全身疾患。11例非患病亲属仅接受眼部检查。对这19例研究对象各抽取外周血5ml，提取基因组DNA。针对国外文献报道(截至2003年1月为止)的与常染色体显性遗传先天性白内障相关的10个基因(CRYAA、CRYAB、CRYBA1／A3、CRYGD、GJA8、CRYGC、CRYBB2、GJA3、MIP及BFSP2)的17个突变热点，设计引物使聚合酶链反应扩增的片段覆盖这17个位点，对扩增产物进行测序和序列分析，了解这19名研究对象在17个突变热点上是否有相应的序列改变。结果：19例研究对象，在国外文献报道的17个与常染色体显性遗传先天性白内障相关的突变热点，均未发现相应的序列改变。结论：初步排除这个常染色体显性遗传先天性白内障家系与国外文献报道的17个突变热点相关。

Report of Gene Mutation Hot Spots Analysis in One Congenital Cataract Pedigree

Purpose :To analyse autosomal dominant gene mutation hot spots in a four-generation Chinese congenital cataract pedigree. Methods : Nineteen family members of the pedigree (including eight affected and eleven unaffected individuals) were enrolled into the study with informed consent. The eight affected individuals underwent a full ophthalmologic and general examination to rude out any concomitant disorders.The eleven unaffected individuals only underwent ophthalmologic examination.Blood samples were taken from the nineteen subjects for genomic DNA preparation. Seventeen distinct loci on ten different genes (including CRY A A ,CRYAB, CRYBA1/A3 ,CRYGD, GJA8 ,CRYGC ,CRYBB2 ,GJA3 ,MIP and BFSP2 )have been identified as causes of autosomal dominant congenital cataract (ADCC).Polymerase chain reaction (PCR) amplification of ten gene segments encompassing seventeen mutation hot spots were carried out in the nineteen subjects of the pedigree. Sequences and analysis of PCR products were then performed to detect corresponding mutations. Result: No mutation was found on the seventeen autosomal dominant mutation hot spots in all nineteen subjects. Conclusion : Preliminarily exclude the association of the seventeen published autosomal dominant mutation hot spots with ADCC in this family.