摘要
目的了解金华地区育龄妇女眼皮肤白化病(OCA)基因变异携带率,对眼睛出生缺陷防控提供参考依据,大力预防和降低金华地区眼皮肤白化病患儿的出生率。方法收集2017年10月—2021年2月符合标准的育龄妇女标本580例,用高通量测序技术进行眼皮肤白化基因变异筛查,对携带相同基因夫妇进行验证;对临床诊疗中发现眼皮肤白化病患儿随访并检测其父母。结果580例育龄妇女检测中眼皮肤白化病基因变异携带者阳性9例,携带率1.55%。其中OCA1型7例以c.895C>A、c.1265G>A为主,OCA2型2例。临床诊疗中发现生育眼皮肤白化病患儿1例,随访夫妻为OCA2型基因变异携带者分别为c.2438G>A(妻子)和c.1349C>T(丈夫)。结论早期掌握金华地区育龄妇女OCA基因变异携带谱,为提高诊断策略和解释基因诊断提供了依据,为家系的遗传咨询及产前诊断提供依据,为构建一级防控筛查体系提供研究数据。
Objective The aim of this study is to explore the situation of OCA gene mutation in the fertile woman in Jinhua,establish the OCA gene mutation database in the region,and provide important reference data for genetic counseling and prenatal diagnosis,which can vigorously prevent and reduce the birth rate of children with ocular cutaneous albinism in Jinhua.Methods From October 2017 to February 2021,580 samples of fertile woman were selected.High-throughput sequencing technology was used in carrier screening,and the positive spouses of carriers were verified.The children with oculocutaneous albinism were followed up and their parents were tested.Results Among the 580 cases of the fertile woman,9 were positive carriers,and the carrier rate was 1.55%.Among them,7 cases of OCA1 were mainly c.895 C>A and c.1265 G>A,2 cases of OCA2.And one pair of couples with different mutation sites of OCA2 gene were found,the carriers of OCA2 gene mutation in this couple were c.2438 G>A(wife)and c.1349 C>T(husband)respectively.Conclusion Early mastery of the OCA gene mutation carrier spectrum in fertile women in Jinhua provides a basis for improving diagnostic strategies and explaining gene diagnosis and genetic counseling and prenatal diagnosis of families,and guides eugenics to play a role.Research data can be provided for constructing a primary prevention and control screening system.
作者
温佶俐
金克勤
杨英
程雪莹
陆慧慧
张翔翔
WEN Jili;JIN Keqin;YANG Ying;CHENG Xueying;LU Huihui;ZHANG Xiangxiang(Department of Ophthalmology,Affiliated Jinhua Hospital of Zhejiang University School of Medicine,Jinhua,Zhejiang 321000,China;Genetic Laboratory,Jinhua Women&Children’s Health Hospital,Jinhua,Zhejiang 321000,China;Gynecology Care Department,Wuyi Women&Children’s Health Hospital,Jinhua,Zhejiang 321000,China)
出处
《中国优生与遗传杂志》
2021年第8期1171-1174,共4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)。
关键词
眼皮肤白化病
基因变异谱
育龄妇女
oculocutaneous albinism
mutation spectrum
fertile woman
