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目的:探讨维吾尔族遗传性聋非综合征型耳聋患者GJB2基因突变与肾虚血瘀型的关系。方法:采用PCR直接测序法对新疆维吾尔族遗传性聋非综合征型耳聋患者43例和健康对照46例进行GJB2基因突变的检测,对耳聋患者中医辨证分为肾虚血瘀型和非肾虚血瘀型。结果:在编码区耳聋组肾虚血瘀型患者中发现1例235delC杂合突变,2例35delG杂合突变;在非肾虚血瘀型患者中发现1例233delC纯合突变。在正常对照组中未发现这3种改变。结论:维吾尔族遗传性聋非综合征型耳聋患者GJB2基因突变率在肾虚血瘀型的分布有偏高的趋势;肾虚血瘀可能是导致其GJB2基因突变产生差异性的原因之一,具有一定的民族和地域特点。
Objective: To investigate the relationship between GJB2 gene mutation and kidney deficiency and blood stasis syndrome in Uighur hereditary deafness-nonsyndromic deafness patients. Methods: GJB2 gene mutation was detected in 43 cases of Uygur hereditary deafness and 46 cases of healthy control by Xinjiang Uyghur Hereditary Deafness. The TCM syndrome differentiation of deafness patients were divided into Kidney deficiency and blood stasis type and non-Kidney blood stasis type type. Results: One case of 235delC heterozygous mutation and two 35delG heterozygous mutation were found in deafness group of kidney deficiency and blood stasis type. One case of 233delC homozygous mutation was found in non-kidney deficiency and blood stasis type. In the normal control group did not find these 3 changes. Conclusion: The prevalence of GJB2 gene mutation in non-syndromic deafness patients with hereditary deafness in Uygur tends to be high in the distribution pattern of kidney deficiency and blood stasis. Kidney deficiency and blood stasis may be one of the reasons leading to the difference of GJB2 gene mutation, Ethnic and geographical features.