[Real-time fluorescent PCR for screening AZFc/DAZ microdeletions on the Y chromosome in male infertility patients].

Objective: To develop a real-time fluorescent PCR protocol suitable for the routine screening of AZFc/DAZ microdeletions on the Y chromosome in azoospermic and oligozoospermic male infertility patients.

Methods: A set of real-time fluorescent PCR was established. Eighty-seven azoospermic and ligozoospermic patients undergoing ICSI in the IVF center and 30 azoospermic men undergoing testicular biopsy in the clinic of urology surgery were screened for AZFc/DAZ microdeletions of Y chromosome.

[Establishment and preliminary application of screening methods for Y chromosome microdeletions in male infertility patients].

Objective: To develop a multiplex PCR protocol, which could be suitable for routine screening of microdeletions on the Y chromosome in azoospermic and oligozoospermic male infertility patients.

Methods: Five multiplex sets were established. Eighty-seven azoospermic and oligozoospermic patients undergoing intracytoplasmic sperm injection (ICSI) in the in vitro fertilization (IVF) center and 30 azoospermic men undergoing testicular biopsy in the clinic of Urology Surgery were screened for microdeletions of Y chromosome.

[Molecular characterization of a new mutation E122G of human ornithine transcarbamylase gene].

Objective: To determine the molecular basis of late onset ornithine transcarbamylase (OTC) deficiency in a Chinese family of Han nationality and the exon sequences of OTC gene of this patient.

Methods: Polymerase chain reaction-single strand conformation polymorphism and direct sequencing were used to identify the mutation type.

Results: A missense mutation E122G in the conserved residue of exon 4 was identified which is unreported before.