试管婴儿双胎与自然受孕婴儿双胎耳聋基因突变对比分析.docxVIP

? ? 试管婴儿双胎与自然受孕婴儿双胎耳聋基因突变对比分析 ? ? ［Summary］目的 通过前瞻性队列分析对在我院出生并进行听力检查的375例试管婴儿双胎与358例自然受孕双胎婴儿耳聋基因筛查的突变情况、听力筛查结果，探讨两者之间是否存在差异，导致差异发生的可能原因。方法 选取 2018年4月1日至2019年12月31日在本院出生并于出生后30-42天内到眼耳鼻喉科进行听力检查的375例试管婴儿双胎（试管组）作为研究对象，同期自然受孕婴儿双胎358例作为对照组。详细采集试管组及对照组新生儿耳聋基因数据、听力筛查结果。结果1、试管婴儿双胎耳聋基因突变携带率为4.8%，自然受孕双胎婴儿耳聋基因突变携带率为3.91%；2、试管组和自然组新生儿耳聋基因突变检测结果中，GJB2 基因突变检出率分别为3.2%、2.23%，SLC26A4 基因突变检出率分别为1.07%、0.56%，线粒体12S rRNA 基因突变检出率分别为0.53%、1.12%；3、两组GJB2 基因235delC基因单杂合突变分别为2.67%、1.68%；299_300 del AT基因单杂合突变分别为0.53%、0.56% ；4、试管婴儿双胎耳聋基因突变组有1例未通过听力筛查；结论1、试管婴儿双胎耳聋基因突变携带率高于自然受孕双胎婴儿耳聋基因突变携带率；2、可能原因与IVF技术有关。 【Keys】试管婴儿；自然受孕；双胎；耳聋基因；突变；听力检测； Comparative analysis of deafness gene mutations in test-tube baby twins andnaturally conceived twins WANG Tao Sha ，WANG Wei Dong Changsha Maternal and Child Health Care Hospital 41007 [Abstract]ObjectiveThrough prospective cohort analysis, 375 test-tube baby twins and 358 naturallyconceived twins who were born in our hospital and undergo hearing examinations wereexamined for mutations in deafness gene screening and hearing screening results to explore whether there are differences between the two , The possible reasons for the difference.Methods375 test-tube baby twins (test-tube group) who were born in our hospital from April1, 2018 to December 31, 2019 and went to the Department of Otolaryngology and Otolaryngology within 30-42 days of birth were selected as the research objects. 358 twins of naturally conceived infants served as the control group. Collect the deafness gene data and hearing screening results of newborns in the test tube group and the control group in detail.Results 1. The mutation carrier rate of deafness genes in test-tube babies was 4.8%, and the mutation carrier rate of deafness genes in naturally conceived twins was 3.91%; 2. GJB2 gene mutations were detected in the test-tube group and natural group neonatal deafness gene mutation test results The rates were 3.2% and 2.23% respectively. The detection rates of SLC26A4 gene mutations w