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藏酋猴Mhc-DPB1基因exon 2的多态性
藏酋猴 主要组织相容性复合体Ⅱ类 DPB1基因 遗传多态性 跨物种多态
2013/7/21
主要组织相容性复合体(Major histocompatibility complex, MHC)对许多疾病的易感性和抵抗力起着重要的作用。为了解藏酋猴(Macaca thibetana)的MHC基因遗传背景, 以促进藏酋猴遗传资源的保护及其在生物医学研究中的应用, 文章采用PCR扩增和克隆测序等方法对来自四川地区的70个藏酋猴样品的Mhc-DPB1基因exon 2进行了检测和分析。首次在藏酋猴中...
Association of Long Polyglycine Tracts（GGN Repeats）in Exon 1 of the Androgen Receptor Gene With Cryptorchidism and Penile Hypospadias in Iranian Patients
CAG repeats testicular dysgenesis syndrome molecular diagnosis
2008/12/24
Hypospadias (a urethral orifice located along the ventral side of the penis) and cryptorchidism (failure of the testes to descend into the scrotal sacs) are the 2 most common congenital malformat...
Compound Heterozygous Mutations in the SRD5A2 Gene Exon 4 in a Male Pseudohermaphrodite Patient of Chinese Origin
5--Reductase enzyme deficiency 5--reductase type 2 gene mutations male pseudohermaphroditism
2008/12/22
The goal of this study was to perform 5--reductase type 2 gene (SRD5A2) analysis in a male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and normal androgen receptor (AR)...
苯丙氨酸羟化酶（PAH）基因外显子7及其两侧内含子的突变研究Mutations in Exon 7 of the Phenylalanine Hydroxylase（PAH）Gene in Chinese Patients with Phenylketonuria
苯丙氨酸羟化酶 外显子 基因突变 单链构象多态性 序列分析
2008/1/6
为探讨中国苯丙酮尿症（PKU）人群中苯丙氨酸羟化酶（PAH）基因外显子7的突变特征，对147例PKU患儿的294个PAH基因外显子7以及两侧部分内含子序列，应用PCR－单链构象多态性（SSCP）分析及基因序列分析的方法进行了筛查和确定。共发现13种突变基因：G239D、R241C、R241fs、R243Q、G247S、G247V、R252Q、L255S、R261Q、M276K、E280G、P281...
Polymorphism exon 1 variant at the locus of the scavenger receptor class B type I gene: influence on plasma LDL cholesterol in healthy subjects during the consumption of diets with different fat contents
dietary intervention LDL cholesterol genetic polymorphism
2016/12/30
The objective of the study was to determine whether the exon 1 variant (G→A) at the SRB-I gene is associated with the lipid response to the content and quality of dietary fat in healthy subjects.