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The Study on Application of Detection of Y Chromosomal Microdeletion in Patients with Idiopathic Azoospermia or Oligospermia

Author: YuanHuiZhen
Tutor: LiuYanQiu
School: Nanchang University
Course: Cell Biology
Keywords: Y chromosome microdeletions AZF gene Primary oligozoospermia Primary azoospermia Male infertility
CLC: R698.2
Type: Master's thesis
Year: 2009
Downloads: 70
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Abstract


Objective: To establish primary oligozoospermia and azoospermia patients with Y chromosome microdeletions molecular detection methods, the application of the established method of primary oligozoospermia and azoospermia patients and normal fertile male Y chromosome microdeletions molecular detection, determine oligozoospermia and azoospermia patients missing rate, to explore the the Y chromosome part spermatogenic gene deletion with idiopathic oligozoospermia and azoospermia relationship and its distribution pattern, whether to evaluate some patients feasible ICSI and ICSI after the success of the need to provide experimental evidence for prenatal diagnosis. Methods: According to the 2004 EAA (European Association of Andrology) and genetic experiments EMQN (European Molecular Quality Control Network) promulgated the second edition of Y chromosome microdeletions the molecular diagnostics Guide and Reference, this experimental study on the Y chromosome AZFa, AZFb, AZFc, AZFd total of eight STS sites, which selected six sites multiplex PCR molecular detection, two sites for single-plex PCR detection. 51 cases of primary oligozoospermia, azoospermia patients and 10 normal fertile men Y chromosome microdeletions molecular detection. Results: 1. DUT 51 specimens by PCR could be detected by the sex-determining gene (Sex-determining region Y, SRY) specific fragments, showed that the detection of the DNA template to meet the requirements, the entire amplification system effectively. 2.SRY gene amplification length 72-346bp, 472bp, measured (AZFa, AZFb, AZFc) difference four to distinction as an internal reference. The 3.10 normal fertile men specimens were visible SRY, AZFa, AZFb, AZFc amplified bands, indicating that no AZF factor microdeletions. 4.51 cases of primary oligospermia, azoospermia patients were found missing, missing rate of 3.92% (2/51); patients (No. 08) detected sY134 missing patient (No. 34) to detect the sY127 missing, that the both AZFb missing. The AZF deletion rate 3.92% (2/51), which azoospermia missing rate of 8% (2/25) the oligozoospermia deletion rate of 0 (0/26). 3-time PCR single-plex PCR detection to exclude false-positive reactions, these two specimens still no amplification signal above missing, confirmed the existence of sY127, sY134 microdeletions. 6.51 cases of primary oligozoospermia, the azoospermia patients AZFd area without missing. Conclusion: 1.Y chromosome microdeletions associated with primary oligozoospermia and azoospermia. 3.92% incidence of Y chromosome microdeletions in primary oligospermia, azoospermia patients. Without azoospermia deletion rate was 8% (2/25), oligozoospermia missing was 0 (0/26). The missing sites 2.Y chromosome microdeletions distribution associated with idiopathic oligozoospermia and azoospermia. The AZFb region found in the present study two cases Deficits are azoospermia. Y chromosome microdeletions possible through vertical inheritance to male offspring, so the primary oligozoospermia and azoospermia patients during artificial insemination or intracytoplasmic sperm injection, related genetic testing to prevent gene The missing pass on to the next generation to improve the the eugenics rate has important clinical significance. 4.AZFd area missing the type, frequency and oligospermia, azoospermia relations should be further research to prove.

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CLC: > Medicine, health > Surgery > Urology ( urinary and reproductive system diseases) > Men 's sexual dysfunction > Male infertility
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