类固醇生成因子1与46，XY尿道下裂或隐睾的研究

发布时间：2018-09-14 17:58

【摘要】：目的：在46，XY尿道下裂或隐睾病例中寻找类固醇生成因子1(steroidogenic factor-1，SF-1)基因突变情况，通过分析其基因型与临床表型的关系揭示SF-1在人类性腺分化发育过程中的具体作用及机制。方法：于重庆医科大学附属儿童医院住院病人中，收集60例46，XY尿道下裂或隐睾且肾上腺功能正常的患儿为病例组，40例外生殖器发育正常的男性儿童为健康对照组。抽取患者和对照者的外周静脉血2ml，然后提取其基因组DNA，对SF-1基因的2-7外显子和剪切位点进行PCR扩增后直接测序，测序结果用标准核苷酸BLAST软件与人SF-1基因序列（GenBenk序列号NG_008176.1）进行比对以发现基因突变位点。结果有异常的重复测序三次，用T-A克隆法进一步证实。结果： 1.本研究发现了1例SF-1基因突变，为杂合子缺失c.11835delC，是在17例尿道下裂伴隐睾患儿中发现的（1/17=4.9%）。该患儿的表型为尿道下裂会阴型伴双侧隐睾、生后呈女性外阴，严重男性化不全。该缺失位于SF-1的铰链区，导致该蛋白第125位氨基酸由脯氨酸(P/Pro)变成了精氨酸(R/Arg)（CCG→CGA），造成框移突变，使氨基酸翻译提前终止于第295位氨基酸（p.P125RfsX170）。 2.此外还发现了1个SF-1基因多态性位点rs1110061（G/C），，与正常对照组相比，该资料中尿道下裂或隐睾患者中等位基因G/C及各基因型（GG、GC、CC）的频率分布在两组中均无明显统计学差异（P㧐0.05）结论： SF-1很早就作用于人类性腺分化发育，该基因异常可能是46，XY尿道下裂或隐睾儿童的病因之一，其表型为严重男性化不全、严重睾丸发育不全。
[Abstract]:Objective: to find out the mutation of steroid forming factor 1 (steroidogenic factor-1,SF-1) gene in 46 cases of hypospadias or cryptorchidism, and to explore the role and mechanism of SF-1 in the development of human gonad by analyzing the relationship between genotype and clinical phenotype. Methods: 60 children with hypospadias or cryptorchidism with normal adrenal function were collected from the Children's Hospital affiliated to Chongqing Medical University. 40 male children with normal genitalia development were selected as the healthy control group. Results: 1. In this study, a mutation of SF-1 gene was found in 17 children with hypospadias and cryptorchidism (1 / 174.9%). The mutation was heterozygous deletion c.11835delC. it was found in 17 children with hypospadias and cryptorchidism. The deletion was located in the hinge region of SF-1, resulting in the transformation of the 125th amino acid from proline (P/Pro) to arginine (R/Arg) (CCG CGA), resulting in the early termination of amino acid translation at the 295th amino acid (p.P125RfsX170). 2.
【学位授予单位】：重庆医科大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R726.9

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