RESUMO
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. CONCLUSION: The E122G mutation in human OTC gene may cause late onset OTC deficiency.
Assuntos
Doença da Deficiência de Ornitina Carbomoiltransferase/genética , Ornitina Carbamoiltransferase/genética , Idade de Início , Sequência de Bases , Pré-Escolar , DNA/química , DNA/genética , Análise Mutacional de DNA , Saúde da Família , Evolução Fatal , Feminino , Humanos , Masculino , Modelos Moleculares , Mutação de Sentido Incorreto , Ornitina Carbamoiltransferase/química , Doença da Deficiência de Ornitina Carbomoiltransferase/enzimologia , Doença da Deficiência de Ornitina Carbomoiltransferase/patologia , Linhagem , Polimorfismo Conformacional de Fita Simples , Estrutura Secundária de ProteínaRESUMO
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. RESULTS: A total of 19 (16.2%) cases of microdeletions were found in 117 azoospermic and oligozoospermic patients by screening of Y chromosome microdeletions. Of these, 11 cases (18.0%) were found in 61 oligozoospermic patients, and 8 cases (14.3%) were found in 56 azoospermic patients. CONCLUSION: The multiplex PCR protocol presented in this study is an easy-to-do and reliable method for detecting microdeletions on the Y chromosome. Routine screening of microdeletions on the Y chromosome for azoospermic and oligozoospermic patients is essential.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Y/genética , Infertilidade Masculina/genética , Feminino , Testes Genéticos/métodos , Humanos , Infertilidade Masculina/diagnóstico , Masculino , Reação em Cadeia da PolimeraseRESUMO
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. RESULTS: Eleven cases (9.4%) of AZFc/DAZ microdeletions were found in 117 cases of azoospermic and oligozoospermic patients by screening of realtime fluorescent PCR. Four cases (6.6%) were found in 61 oligozoospermic patients, and 7 cases (12.5%) were found in 56 azoospermic patients. CONCLUSION: The real-time fluorescent PCR protocol presented in this study is an easy and reliable method for detection of AZFc/DAZ microdeletions on the Y chromosome, which yields identical results to those of the multiplex PCR.