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中国南方汉族群体27个Y-STR基因座的遗传多态性及 突变研究

Zhongshan Daxue xuebao. Yixue kexue ban, 2015
摘 要: 【目的】 调查27个Y-STR基因座在中国南方汉族群体的遗传多态性及突变情况?【方法】 采集885名中国南方汉族无关男性个体血样和911对父子血样,采用Yfiler?誖Plus扩增体系对样本进行扩增,并进行毛细管电泳检测与分型,统计相关遗传多态性参数,观察Y-STR基因座突变情况? 【结果】 885名无关男性个体中共观察到880种单倍型,其中875种单倍型为唯一单倍型,5种单倍型分别出现两次?单倍型多样性(HD)为0.999 987 2,系统识别能力(DC)为0.994 350 3?27个Y ...
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[The cochlear extracellular matrix gene mutations and hearing loss]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Wang Q, Yuan Y, Han W.
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A Case Report of Erlotinib as First-line Therapy in Extensive Metastatic Patient with Advanced Non-small Cell Lung Cancer [PDF]

, 2009
Wanfeng GUO, Xiaoqing LIU
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[Clinical and molecular characteristics of myeloproliferative neoplasms patients with NFE2 gene mutations]. [PDF]

Zhonghua Xue Ye Xue Za Zhi
Zhao SY, Li B, Xu ZF, Qin TJ, Qu SQ, Pan LJ, Jiao M, Gao QY, Wang HJ, Sun Q, Jia YJ, Yan YR, Gong JY, Li FH, Wang X, Xiao ZJ.   +15 more
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[Clinical characteristics and prognosis of newly diagnosed multiple myeloma patients with FGFR3 gene mutations]. [PDF]

Zhonghua Xue Ye Xue Za Zhi, 2023
Shen N, Zhang J, Xia Y, Shen XX, Wang J, Jin YY, Zhang R, Li JY, Chen LJ.   +8 more
europepmc   +1 more source

[Clinical characteristics and gene mutation analysis of two families with hereditary protein C deficiency]. [PDF]

Zhonghua Xue Ye Xue Za Zhi, 2023
Zeng ML, Yang LL, Zou AQ, Chen Y, Jia KQ, Wang MS, Jin YH.   +6 more
europepmc   +1 more source

[Glomerulopathy with fibronectin deposits caused by <i>FN1</i> gene mutation: A familial case report and literature review]. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban
Chen Q, Qin L, Luo Y, Liu Y, Guo F, Yang J.   +5 more
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[Clinical phenotype characteristics and genetic analysis in children with nephronophthisis and related syndromes caused by different gene mutations]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi, 2023
Zhao X, Jiang LJ, Rong ZH, Dou ZY, Su QX, Liang YH, Qi XJ.   +6 more
europepmc   +1 more source

[Clinical and gene mutation features of cystic fibrosis: an analysis of 8 cases]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi, 2022
Zhang N, Liu JH, Chu YJ, Shuai JF, Huang KL.   +4 more
europepmc   +1 more source

[NDUFAF2 gene mutation presenting as primary pulmonary hypertension: a case report]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Yan XD, Chen YY, Tao L.
europepmc   +1 more source