绵阳地区育龄女性FMR1和SMN1基因与耳聋相关基因筛查情况分析

doi:10.11958/20251484

天津医药 ›› 2026, Vol. 54 ›› Issue (3): 329-332.doi: 10.11958/20251484

绵阳地区育龄女性FMR1和SMN1基因与耳聋相关基因筛查情况分析

王丹(), 金卓婷, 潘长清, 郑茜文, 于文亮, 邓艳梅, 张勇^△()

电子科技大学医学院附属绵阳医院绵阳市中心医院妇产科（邮编621000）

收稿日期:2025-04-09 修回日期:2025-09-15 出版日期:2026-03-15 发布日期:2026-03-17
通讯作者: △E-mail：13808110138@163.com
作者简介:王丹（1981），女，副主任医师，主要从事妇科肿瘤及盆底功能障碍性疾病研究。E-mail：wangd202501@163.com
基金资助:
四川省医学会科研基金专项科研课题(S15046);吴阶平医学基金会基金项目(320.6750.2021-25-11)

Analysis of screening results of FMR1, SMN1 and deafness-related genes in reproductive-age women in Mianyang area

WANG Dan(), JIN Zhuoting, PAN Changqing, ZHENG Qianwen, YU Wenliang, DENG Yanmei, ZHANG Yong^△()

Department of Obstetrics and Gynecology, Mianyang Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Mianyang 621000, China

Received:2025-04-09 Revised:2025-09-15 Published:2026-03-15 Online:2026-03-17
Contact: △E-mail：13808110138@163.com

王丹, 金卓婷, 潘长清, 郑茜文, 于文亮, 邓艳梅, 张勇. 绵阳地区育龄女性FMR1和SMN1基因与耳聋相关基因筛查情况分析[J]. 天津医药, 2026, 54(3): 329-332.

WANG Dan, JIN Zhuoting, PAN Changqing, ZHENG Qianwen, YU Wenliang, DENG Yanmei, ZHANG Yong. Analysis of screening results of FMR1, SMN1 and deafness-related genes in reproductive-age women in Mianyang area[J]. Tianjin Medical Journal, 2026, 54(3): 329-332.

摘要/Abstract

摘要：

目的探讨四川绵阳地区脆性X智力低下1号（FMR1）基因、运动神经元存活1号（SMN1）基因与耳聋相关基因的联合筛查结果及其临床意义。方法选取1 000例进行产前检查者进行横断面研究。使用AmplideX检测技术检测FMR1基因CGG重复序列数，采用实时荧光定量PCR方法检测SMN1基因拷贝数变异，并通过熔解曲线法检测耳聋相关基因15个位点的基因型和等位基因频率。结果 1 000例样本中FMR1基因共检测到27种不同的CGG重复数，CGG重复数目变异范围为26~62，未检出全突变携带者，但检出2例（0.2%）FMR1基因前突变。SMN1基因拷贝数≥2的脊髓性肌萎缩症（SMA）非携带者有981例（98.10%）；携带1个SMN1拷贝的SMA携带者有19例（1.90%）。耳聋相关基因检测中，耳聋基因携带者43例（4.30%）。正常妊娠者和流产者间的CGG重复数目分布、SMN1基因拷贝数及耳聋相关基因携带频率的差异均无统计学意义（P>0.05）。结论初步掌握了绵阳地区育龄女性的FMR1、SMN1和耳聋相关基因的分布情况，可为高风险胎儿的产前诊断和预防出生缺陷提供依据。

关键词: 遗传咨询, 流产, FMR1基因, SMN1基因, 耳聋基因

Abstract:

Objective To investigate the combined screening results and their clinical significance of Fragile X Mental Retardation 1 (FMR1) gene, Survival Motor Neuron 1 (SMN1) gene and hearing loss-related genes in Mianyang region of Sichuan province. Methods A cross-sectional study was conducted with 1 000 women of reproductive age who sought prenatal counseling. The CGG repeat number of the FMR1 gene was detected using the AmplideX technique, while SMN1 gene copy number variations were detected by real-time fluorescence quantitative PCR. The genotypes and allele frequencies of 15 loci in hearing loss-related genes were determined by melting curve analysis. Results In the 1 000 samples, 27 different CGG repeat numbers of FMR1 gene were detected, with the repeat range from 26 to 62. No full mutation carriers were found, but 2 cases (0.2%) of FMR1 gene premutation were identified. Among the SMN1 gene copy numbers, 981 cases (98.10%) had ≥2 copies, while 19 cases (1.90%) were SMA carriers with only 1 copy of the SMN1 gene. In the hearing loss-related gene screening, 43 carriers of hearing loss genes (4.30%) were identified. There were no significant differences in the distribution of CGG repeat numbers, SMN1 copy numbers and hearing loss-related gene carrier between the normal pregnancies and the miscarriages (P>0.05). Conclusion The study provides a preliminary understanding of the distribution of FMR1, SMN1 and hearing loss-related genes in the Mianyang region. It can serve as a basis for prenatal diagnosis and the prevention of birth defects in high-risk fetuses.

Key words: genetic counseling, miscarriage, FMR1 gene, SMN1 gene, deafness genes

中图分类号:

R715.5，R394

图/表 3

参考文献 22

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基因名称	引物序列（5'→3'）
FMR1	上游：TGAGGCCGTGACGTCCGTTAGCCTTTGA
FMR1	下游：ATGCCGGATAGGACGGGCGACTTGC
FMR1- CGG	ACGCTGTAGTCTGTCCGCACTTGCGGCGGCGCGCCGGCC

基因名称	引物序列（5'→3'）
FMR1	上游：TGAGGCCGTGACGTCCGTTAGCCTTTGA
FMR1	下游：ATGCCGGATAGGACGGGCGACTTGC
FMR1- CGG	ACGCTGTAGTCTGTCCGCACTTGCGGCGGCGCGCCGGCC

基因	突变位点	检出数	检出率/%
GJB2	c.176 del 16杂合	3	0.30
	c.235 del C杂合	19	1.90
	299 del AT杂合	8	0.80
GJB3	c.538 C>T杂合	1	0.10
SLC26A4	c.2168 A>G杂合	3	0.30
	c.1975G>C杂合	1	0.10
	c.IVS7-2 A>G杂合	5	0.50
MT-RNR1	m.1555 A>G突变	3	0.30
合计		43	4.30

基因	突变位点	检出数	检出率/%
GJB2	c.176 del 16杂合	3	0.30
	c.235 del C杂合	19	1.90
	299 del AT杂合	8	0.80
GJB3	c.538 C>T杂合	1	0.10
SLC26A4	c.2168 A>G杂合	3	0.30
	c.1975G>C杂合	1	0.10
	c.IVS7-2 A>G杂合	5	0.50
MT-RNR1	m.1555 A>G突变	3	0.30
合计		43	4.30

组别	n		FMR1基因CGG重复数目
组别	n		正常范围（6~34）		正常范围高限（35~44）		灰区（45~54）		前突变（55~200）
正常妊娠组	733		550（75.0）		179（24.4）		2（0.3）		2（0.3）
流产组	267		205（76.8）		59（22.1）		3（1.1）		0（0）
χ²			4.084
组别		SMN1基因拷贝数				耳聋相关基因
组别		1		≥2		15个位点		未携带
正常妊娠组		16（2.2）		717（97.8）		37（5.0）		696（95.0）
流产组		3（1.1）		264（98.9）		6（2.2）		261（97.8）
χ²		1.178				3.839

绵阳地区育龄女性FMR1和SMN1基因与耳聋相关基因筛查情况分析

Analysis of screening results of FMR1, SMN1 and deafness-related genes in reproductive-age women in Mianyang area

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