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作 者:林允寿 冯唯[1] 李克秋[1] 赵玉霞[1] 景亚青 张天可 李光[1]
出 处:《中国优生与遗传杂志》2015年第8期24-26,31,F0002,共5页Chinese Journal of Birth Health & Heredity
基 金:天津市科技支撑计划(12ZCZDSY03400)
摘 要:目的探讨性反转综合征的发生与性别分化相关基因SRY、WT1及SOX9之间的关系。方法收集4例46,XY女性患者,1例46,XX男性患者及18例核型性别一致的正常人,进行染色体核型分析、Y染色体微缺失、PCR及Sanger测序检测。结果 4例46,XY女性患者Y染色体无片段缺失,SRY基因阳性且无突变,3例患者的WT1基因8号外显子(CHM11:32396408)发现纯合同义突变(A>G),1例患者的SOX9基因3号外显子检测出SNP(CHM17:72124410,A>C)。46,XX男性患者Y染色体微缺失结果:SRY、ZFY、s Y123和s Y127基因出现目的条带;且SRY基因无突变。结论本研究中,4例46,XY女性患者无SRY基因突变;WT1基因的突变和SOX9的SNP不是造成性反转综合征的常见原因。除了SRY、WT1和SOX9基因之外,还有其它基因的突变可以造成XY患者性反转。SRY基因阳性是XX患者发育成男性的原因。Objective:To explore the relationship between the sex reverse syndrome and the genes SRY,WT1 and SOX9 which are related to the sex determination. Methods:Collected 4 patients with XY female sex reversal,1 patient with XX male reversal and 18 people with the normal karyotype. Then performed the karyotype analysis,Y chromosome microdeletion,PCR and Sanger sequencing on each of them. Results:The 4 XY female sex reverse patients have complete Y chromosomes. All of their SRY genes have no mutation. Among the 3 of them,we found that there is a homozygous synonymous mutation(AC)in the exon 8of the WT1 gene(CHM11:32396408). And 1 of them was detected with the SNP(CHM17:72124410,AC)in the exon 3of the SOX9 gene. As for the XX male sex reverse patient,the Y chromosome microdeletion shows that SRY,ZFY,s Y123 and s Y127 are positive. The SRY gene with no mutation could be detected. Conclusion:The study shows the 4 patients with XY female sex reversal have no SRY mutation;the sex reverse syndrome is not blamed for the mutation of the WT1 gene and the SNP of the SOX9 gene. There may be other mutated genes which cause the XY female reversal. The existence of the SRY gene can cause the XX male reversal.
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