In Case Of 46, Xy Completely Gonad Dysplasia Genetic Studies Of Patients

The sex differentiation of hunman starts when the zygote become embryo. If the embryo has SRY gene which linkage in Y chromosome, the embryo will differentiate to male, or it will be female. A lot of genes participate in this process, they express under a rigorous order and become a strict system. They play a important role in the formation of gonadal and sexual organ, any abnormal gene express will lead to disorders of sex development, some of them are considered to seize more important positions in sex differentiation, like SRY,SOX9(Sry-type HMG box9),SOX3(Sry-type HMG box3),DAX1(Dosage sensitive sex-reversal-adrenal hypoplasia congenital-critical region of the X chromosome gene1),AMH (Anti-Mullerian hormone),SF1(Steroidogenic factor1),DHH(desert hedgehog) WT1(Wilms ’tumor suppressor gene1), WNT4(Wilms’tumor suppressor gene4) and DMRT1(Doubesexand mab3-related transcription factorl)46,XY complete gonadal dysgenesis (46,XY CGD) is a kind of46,XY disorders of sex development. It is characterized by a46,XY karyotype, normal female external genitalia, completely undeveloped ("streak") gonads, no sperm production, and presence of normal mullerian structures. To study the manifestation and genetic mechanisms of complete gonadal dysgenesis, we do some research based on one case of46,XY,CGD female patirnt. FISH, PCR, azoospermia factors(AZF) microdeletions of Y-Chromosome analysis and Affmetrix Cytogenetics Whole Genome2.7M Arrays were applied for detecting the Genomic DNA from this girl.The result of12STSs in the AZFa, AZFb, AZFc region of Yq11.2by amplification multiplex PCR had no deletion in this patient. The FISH result confirmed that SRY gene was normal. Meanwile, the SRY gene and DHH gene were verified by PCR, but no positive outcome of SRY gene and DHH gene were found. Utilizing the Affmetrix Cytogenetics Whole Genome2.7M Arrays, we found that there is duplications band of250kbp in chromosome12which contained DHH gene. The DHH gene plays a important role in human sex determination and differentiation, the duplication maybe affect the gene expression.