大前庭水管综合征患者的耳聋基因突变分析

发布时间：2018-03-13 09:43

本文选题：大前庭水管综征　切入点：基因突变　出处：《延边大学》2017年硕士论文　论文类型：学位论文

【摘要】：目的通过对延边地区大前庭水管综·征(large vestbbular aqueduct syndrome,LVAS)患者进行耳聋基因检测,并分析其突变位点,以明确本地区LVAS患者的基因突变特点,为该疾病患者的早期发现、早期诊断、早期干预提供理论依据。方法选取延边地区6个LVAS家系,其中3个家系为朝鲜族,3个家系为汉族,每个家系包括1个先证者及其父母,共18人。抽取每个家系3个成员的外周静脉血,应用"ClaSeek LigationMax(DNA基因剂盒),,进行聋病基因检测,对该家系的致聋基因进行分析。结果①所有LAVS患者的耳聋基因突变均为复合杂合突变,突变基因均为SLC26A4;②6名先证者中,3名含有c.2168AG(H723R),2名含有c.919-2AG(IVS7-2AG),2 名含有 c.1229CT(T410M),1 名含有 c.2027 TA(L676K),1名含有c.1226GA(R409H),1 名含有 c.1975GC(V659L),1 名含有 c.916duq3G(V306Gfs*24),1 名含有 c.1173CA(S391R);③6名先证者的听力学特征为波动性或进行性听力下降,其中3名先证者出生时通过听力筛查,听力损失为迟发性;结论①延边地区大前庭水管综合征患者的主要致聋基因为SLC26A4,符合东亚人的热点突变;② 延边地区朝鲜族LVAS患者SLC26A4主要以c.2168AG(H723R)为主,汉族 LVAS 患者 SLC26A4 主要以 c.919-2AG(IVS7-2AG)为主;③耳聋基因诊断有助于LVAS患者的早期发现、早期诊断及早期干预。
[Abstract]:The purpose of Yanbian region through the large vestibular aqueduct syndrome (large vestbbular aqueduct, in syndrome, LVAS) in patients with genetic testing for deafness, and to analyze the mutations, to clear the area of gene mutations in LVAS patients, for the early detection of the disease, early diagnosis, and provide a theoretical basis for early intervention. Methods in Yanbian area 6 LVAS families, including 3 families of Koreans, 3 families of Han nationality, each family including 1 probands and their parents, a total of 18 people. The peripheral venous blood of 3 members from each family, "ClaSeek LigationMax (DNA gene Kit), and for detection of deafness genes of this family of deafness genes were analyzed. Results: all LAVS patients with deafness gene mutations were compound heterozygous mutations, mutations were SLC26A4; the 6 probands, 3 with c.2168AG (H723R), 2 with c.919-2AG, 2 (IVS7-2AG) The name containing c.1229CT (T410M), 1 with c.2027 TA (L676K), 1 with c.1226GA (R409H), 1 with c.1975GC (V659L), 1 with c.916duq3G (V306Gfs*24), 1 with c.1173CA (S391R); the audiological characteristics of 6 probands for volatility or hearing fall, including 3 probands at birth by hearing screening, hearing loss was delayed; the Yanbian area of large vestibular aqueduct syndrome mainly caused deafness genes for SLC26A4, with the SLC26A4 mutation hotspot in East Asia; the Korean LVAS patients in Yanbian area with c.2168AG (H723R), Han LVAS SLC26A4 were mainly c.919-2AG (IVS7-2AG); early detection of the deafness helps patients with LVAS gene diagnosis, early diagnosis and early intervention.

【学位授予单位】：延边大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R764.43

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