两个中国籍先天性眼外肌纤维化家系基因定位与临床分型

发布时间：2018-06-16 06:01

本文选题：先天性眼外肌纤维化 + 常染色体显性遗传　；参考：《眼科新进展》2017年12期

【摘要】：目的通过候选基因法对2个中国籍先天性眼外肌纤维化(congenital fibrosis of the extraocular muscles,CFEOM)家系进行致病基因定位及疾病分型。方法对2个CFEOM家系所有成员均采集病史、体格检查、抽取外周静脉血5~8 mL并提取基因组DNA。选择KIF21A第2、8、20、21外显子;PHOX2A/ARIX第1、2、3外显子;TUBB2B第1、2、3、4外显子;TUBB3第1、2、3、4外显子区域进行PCR引物合成并将扩增样品进行纯化测序,结果应用Chromas 2.3及DNAman 7.0软件进行序列比对分析。结果家系1五代中9人患病,均具有典型CFEOM外观特征。致病基因位于KIF21A基因外显子21,2860CT。家系2四代中4人患病,除1人临床表型不典型外,其他3人都具有典型的CFEOM外观特征。致病基因位于TUBB3基因外显子4,1249GA。结论运用候选基因法可快捷、有效地确定遗传性疾病家系的致病基因。家系1属于CFEOM 1A型,为常染色体完全外显的显性遗传;家系2属于CFEOM 3A型,为常染色体不完全外显的显性遗传。
[Abstract]:Objective to identify the pathogenic gene location and disease classification of 2 Chinese native congenital fibrosis of the extraocular muscles (CFEOM) families by candidate gene method. Methods all members of the 2 families of CFEOM families were collected for medical history, physical examination, extraction of 5~8 mL from peripheral venous blood and genomic DNA. selection KIF21A. Exon 2,8,20,21, exon 1,2,3, exon 1,2,3, exon of TUBB2B, exon 1,2,3,4 of TUBB2B, exon of TUBB2B, PCR primers in exon 1,2,3,4 of TUBB3 and the amplified samples were purified and sequenced. The results were analyzed by sequence alignment using Chromas 2.3 and DNAman 7 software. The results showed that 9 of the 1 and five generations of the family had a typical CFEOM appearance. The disease gene is located in the 2 four generation of KIF21A gene exon 212860CT. family, 4 people are ill. Except for 1 people, 3 people have typical CFEOM appearance characteristics. The pathogenic gene is located in exon TUBB3 gene 41249GA. conclusion using candidate gene method can effectively determine the pathogenic gene of hereditary disease family, 1 genera of family. In CFEOM 1A, it is a dominant dominant autosomal dominant inheritance. Family 2 belongs to CFEOM 3A type, and is an autosomal dominant dominant inheritance.
【作者单位】：南昌大学附属眼科医院;
【基金】：江西省科技厅自然科学基金(编号:20132BAB205028) 江西省科技支撑计划(编号:2013BBG70093) 江西省远航工程(编号:2017001) 江西省教育厅科研基金(编号:GJJ150286) 江西省教育厅科研计划重点项目(编号:GJJ160049)~~
【分类号】：R777.4

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