1063例育龄人群GALC基因携带结果分析
Analysis of screening results for GALC gene mutations in a fertile population of 1063 individuals
李沁民 1金克勤 1温佶俐 2杨英 3陈子慧1
作者信息
- 1. 金华市妇幼保健院遗传实验室,浙江金华 321000
- 2. 金华市中心医院眼科,浙江金华 321000
- 3. 武义县妇幼保健院妇保科,浙江金华 321000
- 折叠
摘要
目的 了解金华市育龄人群中携带GALC基因变异情况,为预防和控制出生神经代谢遗传病缺陷儿提供参考依据.方法 回顾性收集2016年9月至2022年10月期间1063例标本,基于高通量测序技术对育龄人群进行GALC基因变异筛查,并进行变异基因致病性探讨,同时统计分析遗传携带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 1063例育龄人群检测中GALC基因变异携带者阳性20例,携带率1.88％,以c.1901T＞C为主.召回携带者阳性配偶及亲属,未发现夫妇双方均携带GALC基因变异.结论 早期进行本地区GALC基因携带者筛查至关重要,其对预知后代遗传风险,便于生殖干预提供决策依据,为构建一级防控体系提供参考价值.
Abstract
Objective The aim of this study is to explore the prevalence of GALC gene mutations in the fertile popu-lation in Jinhua,aiming to provide a reference for the prevention and control of genetic defects related to neural metabolism at birth.Methods From September 2016 to August 2022,1063 specimens were retrospectively collected.Using high-throughput sequencing technology,GALC gene variations were screened in the fertile population,and the pathogenicity of GALC gene variations was investigated.The genetic carrier rate and distribution of pathogenic variations were analyzed statistically.Cou-ples carrying the same pathogenic variation were verified and followed up.Results Among the 1063 cases in the fertile popu-lation,20 tested positive as carriers,resulting in a carrier rate of 1.88％,predominantly involving c.1901T＞C.Positive spouses and relatives of carriers were contacted,but no GALC gene variants were found in any of the couples.Conclusion Early screening of GALC carriers in the region is crucial.It provides a basis for decision-making to predict the genetic risk of off-spring and facilitates reproductive intervention.Furthermore,it offers a reference value for the establishment of a primary prevention and control system.
关键词
Krabbe病/GALC基因/变异谱/育龄人群Key words
Krabbe disease/GALC gene/variation spectrum/fertile population引用本文复制引用
基金项目
金华市科学技术计划(2017-3-023)
金华市科学技术计划(2018-3-003)
金华市科学技术计划(2018-3-029)
金华市妇幼保健院科研培育基金一般项目(JHFB2021-2-06)
出版年
2024
NETL
NSTL
万方数据