一个侗区先天性白内障家系致病突变筛查
摘要
目的探索一个先天性白内障家系的致病基因和致病突变。方法收集家系内患者的临床资料,采集家系内患者及正常人对照的外周血并提取基因组DNA,PCR扩增常见的CRYAA、CRYAB、CRYGD、CRYGC、CRYBB2、CJA8共6个基因,用Sanger双向测序和BLAST比对进行突变分析。结果 PCR扩增的先证者基因中检测到3个已知的单核苷酸多态性(Single NucleotidePolymorphisms,SNP),并未发现致病突变。结论排除这6个基因为该家系的致病原因,有待通过外显子组测序等更先进的方法筛选致病基因。
引文
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[7]Ma M F,Li L B,Pei Y Q,et al. Use of high-throughput targeted exome sequencing in Genetic diagnosis of Chinese family with congenital cataract[J].International Journal of Ophthalmology,2016,9(5):650.
[8]Jing Yang,Sheng Zhou,Minfei Guo,et al. Different alpha crystallin expression in human age-related and congenital cataract lens epithelium.[J].BMC Ophthalmology,2016,16.
[9]Lee J,Jung SC,YB Hong,et al. Recessive optic atrophy,sensorimotor neuropathy and cat-aract associated with novel compound heterozygous mutations in OPA1[J].Molecular Medicine Reports,2016.
[10] Javadiyan S,Craig J E,Souzeau E,et al. Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract[J].Bmc Research Notes,2016,9(1):1-8.
[11] Reddy M A,Bateman O A,C Chakarova,et al. Characterization of the G91del CRYBA1/3[J].Human Molecular Genetics,2004,13(9):945-953(9).
[2]易敬林.先天性白内障相关晶状体蛋白质基因的研究进展[J].中华眼科杂志,2016,52(2):141-149. DOI:10.3760/cma.j.issn.0412-4081.2016.02.016
[3]严明,周新,陈永梅,等.我国汉族常染色体显性遗传性白内障一家系的基因突变分析[J].中华眼科杂志,2009,45(8):693-698.
[4]Xia X Y,Wu Q Y,An L M,et al. A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family[J].BMC Ophthalmology,2014,14(1):1-7.
[5]Yu Y,Wu M,Chen X,et al. Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts:[J].Scientific Reports,2016,6:26551.
[6]Min H Y,Qiao P P,Asan,et al. Targeted Genes Sequencing Identified a Novel 15 bp Dele-tion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts[J].中华医学杂志(英文版),2016,129(7):860-867.
[7]Ma M F,Li L B,Pei Y Q,et al. Use of high-throughput targeted exome sequencing in Genetic diagnosis of Chinese family with congenital cataract[J].International Journal of Ophthalmology,2016,9(5):650.
[8]Jing Yang,Sheng Zhou,Minfei Guo,et al. Different alpha crystallin expression in human age-related and congenital cataract lens epithelium.[J].BMC Ophthalmology,2016,16.
[9]Lee J,Jung SC,YB Hong,et al. Recessive optic atrophy,sensorimotor neuropathy and cat-aract associated with novel compound heterozygous mutations in OPA1[J].Molecular Medicine Reports,2016.
[10] Javadiyan S,Craig J E,Souzeau E,et al. Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract[J].Bmc Research Notes,2016,9(1):1-8.
[11] Reddy M A,Bateman O A,C Chakarova,et al. Characterization of the G91del CRYBA1/3[J].Human Molecular Genetics,2004,13(9):945-953(9).