Transmission of de novo mutations of the deleted in azoospermia genes from a severely oligozoospermic male to a son via intracytoplasmic sperm injection

Mau Chaio Jiang, Yih Ron Lien, Shee Uan Chen, Tsang Ming Ko, Hong Nerng Ho, Yu Shih Yang

研究成果: 雜誌貢獻文章同行評審

47 引文 斯高帕斯(Scopus)

摘要

Objective: To investigate the transmission of microdeletions in the deleted in azoospermia (DAZ) genes to a male offspring via intracytoplasmic sperm injection (ICSI). Design: Case report. Setting: Reproductive unit of a university teaching hospital. Patient(s): A 29-year-old, severely oligozoospermic male with microdeletions of the DAZ genes in Yq interval 6 and his son, who was conceived via ICSI. Intervention(s): DNA screening for the microdeletions in Yq interval 6 with 24 sequence tagged sites with the use of polymerase chain reaction amplification for the patient, the patient's father, and the patient's son. Paternity identification was performed using nine hypervariable short tandem repeats. Main Outcome Measure(s): Deletion mapping of Yq interval 6 from sequence tagged sites and electropherogram of short tandem repeats for DNA fingerprinting. Result(s): The son had the same microdeletions of the DAZ genes as the patient, and the patient's father had normal DAZ genes. The paternity of the patient, the patient's father, and the patient's son was verified. Conclusion(s): De novo DAZ microdeletions in an infertile male can be transmitted to a male offspring via ICSI. DNA screening tests for DAZ genes before ICSI may help in the genetic counseling of patients with idiopathic azoospermia or severe oligozoospermia.
原文英語
頁(從 - 到)1029-1032
頁數4
期刊Fertility and Sterility
71
發行號6
DOIs
出版狀態已發佈 - 六月 1 1999
對外發佈Yes

ASJC Scopus subject areas

  • Obstetrics and Gynaecology

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