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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Xiao, H. Liao, S. X. Wu, D. Wang, T. Zhang, B. Li, T. Zhang, H. Qin, L. T. |
| Description | Country affiliation: China Author Affiliation: Xiao H ( People's Hospital of Zhengzhou University, Medical Genetic Institute of Henan Province, Zhengzhou, China.); Zhang H ( People's Hospital of Zhengzhou University, Medical Genetic Institute of Henan Province, Zhengzhou, China.); Li T ( People's Hospital of Zhengzhou University, Medical Genetic Institute of Henan Province, Zhengzhou, China.); Wu D ( People's Hospital of Zhengzhou University, Medical Genetic Institute of Henan Province, Zhengzhou, China.); Qin LT ( People's Hospital of Zhengzhou University, Medical Genetic Institute of Henan Province, Zhengzhou, China.); Wang T ( People's Hospital of Zhengzhou University, Medical Genetic Institute of Henan Province, Zhengzhou, China.); Zhang B ( People's Hospital of Zhengzhou University, Medical Genetic Institute of Henan Province, Zhengzhou, China.); Liao SX ( People's Hospital of Zhengzhou University, Medical Genetic Institute of Henan Province, Zhengzhou, China.) |
| Abstract | We determined whether a child with 17 -hydroxylase/17, 20-lyase deficiency possessed the sex-determining region (SRY) gene, and examined the mutations present in the CYP17A1 gene that led to 17 -hydroxylase/17, 20-lyase deficiency. In the child, karyotype analysis was performed and polymerase chain reaction analysis and electrophoretic techniques were used to identify the SRY gene. A total of 50 normal individuals were included as a control group. Polymerase chain reaction and DNA sequencing were used to identify CYP17A1 gene mutations in all samples. The karyotype of the child was 46, XY, which was inconsistent with her social sex, SRY was positive, and a compound heterozygous mutation p. Thr101Ilefs*2 in exon 2 and p. Thr306Ale in exon 5 were identified in the CYP17A1 gene. These mutations were inherited from her parents. In the 20 normal individuals, these mutations were not identified. In the child, sex reversal may have been caused by CYP17A1 mutations. The compound heterozygous mutation of p. Thr101Ilefs*2 and p. Thr306Ale is a new gene mutation of 17 -hydroxylase/17, 20-lyase deficiency. |
| e-ISSN | 16765680 |
| Journal | Genetics and Molecular Research |
| Issue Number | 3 |
| Volume Number | 14 |
| Language | English |
| Publisher | Fundação de Pesquisas Científicas de Ribeirão Preto |
| Publisher Date | 2015-08-10 |
| Publisher Place | Brazil |
| Access Restriction | Open |
| Subject Keyword | Adrenal Hyperplasia, Congenital Genetics Amino Acid Substitution Codon Heterozygote Mutation Steroid 17-alpha-hydroxylase Adolescent Diagnosis Chromosome Banding Dna Mutational Analysis Exons Soxb1 Transcription Factors Sex Determination Processes Research Support, Non-u.s. Gov't Discipline Genetics Discipline Molecular Biology Discipline Bioinformatics |
| Content Type | Text |
| Resource Type | Article Case study |
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