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Cytogenetic and Molecular Cytogenetic Study in Patients with Premature Ovarian Failure

Author: ChengDeHua
Tutor: LuGuang
School: Central South University
Course: Of Medical Genetics
Keywords: Premature ovarian failure X chromosome Fluorescence in situ hybridization Comparative genomic hybridization
CLC: R711.75
Type: Master's thesis
Year: 2007
Downloads: 158
Quote: 1
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Abstract


Objective: premature ovarian failure (premature ovarian failure, POF) is a class of complex female endocrine disorders , genetic factors is an important reason leading to POF onset . This paper aims through traditional cytogenetic techniques further combined with fluorescence in situ hybridization (FISH), comparative genomic hybridization (CGH), PCR and fluorescence quantitative PCR (QF-PCR) and other molecular cytogenetic and molecular genetic techniques in POF detected in patients with conventional banding technique can not be diagnosed chromosomal abnormalities, and to provide a basis for the analysis of karyotype and phenotype relationship , and to lay the foundation for further separation screening POF related gene . Methods: 122 cases collected POF patients and 13 cases may develop into cases of POF , conventional banding technique to analyze the karyotypes . Six cases of suspected chromosomal abnormalities POF patients have occult application of CGH and FISH technology further analysis , one patient with PCR and QF-PCR technology to help determine the fracture site . Results: The application of molecular cytogenetic and molecular genetic techniques found in 135 subjects traditional cytogenetic techniques can not be confirmed six cases of chromosomal abnormalities , including four cases of ring X chromosome , one cases derived from the X: Y Yi bit abnormal X chromosome , the 1 false pairs centromere X chromosome were identified abnormal type fracture sites . The combined traditional cytogenetic found chromosomal abnormalities, 45 cases of chromosomal abnormalities found in the 135 cases subjects patients , of which 122 POF patients the incidence of chromosomal abnormalities was 35.25% ( 43 / 122 ) , 13 may develop into a POF found in patients with chromosomal abnormalities in 2 cases ( 15.38% ) . 122 POF patients , 94 POF patients with Turner syndrome phenotype chromosomal abnormality incidence of 15.96% ( 15 / 94 ) , found that all abnormal karyotypes are related to the X chromosome . Conclusion : FISH and CGH molecular cytogenetic techniques can be effectively discovered and diagnosed with POF patients misprision of chromosomal abnormalities . POF patients with chromosomal abnormalities rate of 35.25 percent , without Turner syndrome phenotype POF patients chromosomal abnormality rate of 15.96% . All chromosomal abnormalities involving the X chromosome , the number of X chromosomes or structural aberrations cause of POF .

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CLC: > Medicine, health > Obstetrics and Gynaecology > Gynecology > Other diseases of the female genital > Ovarian disease
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