【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。更多还原

【Abstract】 Objective The aim of this study is to explore the prevalence of GALC gene mutations in the fertile population 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. Couples carrying the same pathogenic variation were verified and followed up. Results Among the 1063 cases in the fertile population, 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 offspring and facilitates reproductive intervention. Furthermore, it offers a reference value for the establishment of a primary prevention and control system.更多还原