眼出生缺陷疾病的携带基因筛查及临床研究  

Genetic screening and clinical study of ocular birth defect diseases

作　　者：温佶俐 金克勤 杨英 陆慧慧 程雪莹 张翔翔 WEN Jili;JIN Keqin;YANG Ying;LU Huihui;CHENG Xueying;ZHANG Xiangxiang(Department of Ophthalmology,Affiliated Jinhua Hospital of Zhejiang University School of Medicine,Jinhua,Zhejiang 321000,China;Genetic Laboratory,Jinhua Maternal&Child Health Care Hospital,Jinhua,Zhejiang 321000 China;Gynecology Care Department,Wuyi Women&Children’s Health Hospital,Jinhua,Zhejiang 321000,China)

机构地区：[1]浙江大学医学院附属金华医院眼科,浙江金华321000 [2]金华市妇幼保健院遗传实验室,浙江金华321000 [3]武义县妇幼保健院妇保科,浙江金华321000

出　　处：《中国优生与遗传杂志》2023年第8期1633-1637,共5页Chinese Journal of Birth Health & Heredity

基　　金：金华市科学技术项目(2017-3-023);金华市科学技术项目(2018-3-003);金华市科学技术项目(2018-3-029)。

摘　　要：目的 探讨金华地区育龄人群中十余种严重遗传性眼病的携带率,对遗传性眼病的预防咨询、生育指导等提供参考。方法 选取2017年2月至2022年7月的金华地区育龄人群909例,采用二代测序对十余种遗传性眼病进行筛查,并进行变异基因致病性探讨,同时统计分析这些遗传病的发病率及致病变异分布情况。对夫妇携带相同基因的进行验证并随访。结果 909份单基因病携带者筛查,其中672例育龄女性共筛查出遗传性眼病携带者阳性38例,携带基因39个变异基因,其中以眼皮肤白化病(OCA)及Usher综合征(USH)携带率较高,分别为1.79%和4.02%。未筛查出X连锁眼皮肤白化病、CYP1B1相关青光眼、Ehlers-Danlos综合征及Low综合征。召回携带者阳性配偶及亲属,未发现十余种遗传性眼病携带相同基因发生变异。1例OCA患儿在临床诊疗中发现,验证后显示双亲均携带OCA2变异基因,分别为c.2438G>A(母亲)和c.1349C>T(父亲)。结论 早期获得本地区育龄人群中隐性遗传性眼病的基因变异谱,结合遗传咨询,为育龄人士科学地备孕和后期制定合理的治疗方案提供依据,为构建一级防控筛查体系提供数据支撑。Objective To explore the genetic variation carrying rate of More than a dozen genetic ocular diseases among reproductive population in Jinhua,and to provide reference for the prevention and control of eye birth defects.Methods A total of 909 samples of childbearing age in Jinhua area from February 2017 to July 2022 were collected.High-throughput sequencing technique was used to screen the genes of More than a dozen recessive genetic eye disease,and the pathogenicity of mutation genes was discussed.At the same time,the incidence and pathogenic variation distribution of these genetic diseases were statistically analyzed.Validation of couples carrying the same gene;follow-up and detect parents of children with genetic ocular disease found in clinical diagnosis and treatment.Results A total of 909 single gene carriers were screened.Among them,672 women of child-bearing age screened out 38 cases of genetic ocular disease carriers were positive,and 39 mutation genes were carried.Among them,the carrying rate of eye skin albinism and Usher syndrome were higher,1.79%and 4.02%respectively.X-linked ophthalmopathy,CYP1B1-related glaucoma,Ehlers-Danlos syndrome and Low syndrome were not screened.The same gene mutations were not found in More than a dozen types of genetic ocular dis-ease by recalling the spouses or children of carrier-positive women.One child with ocular cutaneous albinism was found in the clinical diagnosis and treatment,and in the follow-up,the parents of the child were OCA2 gene mutation carriers:c.2438G>A(mother)and c.1349C>T(father),respectively.Conclusion It is necessary to grasp the genetic variation spectrum of recessive genetic ocular disease in the early stage of reproductive population in Jinhua area,combine genetic counseling and prenatal diagnosis,and formulate reasonable treatment formulas for the scientific preparation of pregnancy and later stage of reproduc-tive population,and provide the basis for family genetic counseling and prenatal diagnosis,and provide data support for the construction o

关 键 词：遗传性眼病 携带者筛查 基因变异 育龄人群 

分 类 号：R77[医药卫生—眼科]