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Genetic Analysis of a Family with 46, XY “Female” Associated with Infertility |
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| Authors: | Xu WANG Mu-Gen LIU Jing-Yu LIU |
| Institution: | a Human Genome Research Center and College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074 China b The Laboratory of Human Genetics, Institute of Planned Parenthood of Nanyang, Nanyang 473000, China c Department of Molecular Cardiology, the Cleveland Clinic Foundation, Cleveland Ohio 44195, USA |
| Abstract: | Genetic analysis of a family with 46, XY “female” associated with infertility was performed using the conventional G-banding and gene mutation screening. The karyotypes of the two female patients were 46, XY and those of their parents were normal. The mutation screenings in sex-determining region Y (SRY) gene and androgen receptor (AR) gene were carried out. No mutation has been found in the whole coding sequence of SRY gene. The mutation of codon 840 CGT (arginine) to CAT (histidine) of AR gene led to the infertility in the patients. The patients showed androgen insensitivity. The clinical phenotype of theirs presented more deleteriously than and different from the one reported before, though they had the same mutation of codon 840 CGT (arginine) to CAT (histidine) of AR gene, which was very different from the mutation of 840 CGT (arginine) to TGT (cysteine) at the same codon. |
| Keywords: | genetic analysis 46 XY female infertility |
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