Single-nucleotide polymorphisms of MAMLD1 and hypospadias in Chinese / 中华男科学杂志
National Journal of Andrology
;
(12): 727-730, 2012.
Article
in Chinese
| WPRIM
| ID: wpr-286450
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the role of the MAMLD1 gene mutation in the pathogenesis of hypospadias in the Chinese population.</p><p><b>METHODS</b>We collected peripheral venous blood from 150 Chinese children with hypospadias (the case group) and another 120 normal healthy ones (the control group), aged 0.5 to 6 years. We obtained their DNA samples and performed DNA sequencing on the single-nucleotide polymorphisms of MAMLD1, followed by comparative analysis.</p><p><b>RESULTS</b>A known missense mutation polymorphism p. N589S was identified in 12 (8.0%) of the hypospadias patients and 4 (3.0%) of the normal controls, and a novel missense mutation polymorphism p. N567S was identified in 4 (2.7%) of the patients and 3 (2.5%) of the controls, neither with statistically significant differences between the two groups (P > 0.05).</p><p><b>CONCLUSION</b>The results re-emphasized the importance of replication in genetic association approaches, and might reveal a real difference in susceptibility genes among different populations. The single-nucleotide polymorphisms of MAMLD1 bear no obvious correlation with hypospadias, and MAMLD1 is not a candidate gene in its pathogenesis in the Chinese population.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Transcription Factors
/
Haplotypes
/
Nuclear Proteins
/
Case-Control Studies
/
Polymorphism, Single Nucleotide
/
Asian People
/
DNA-Binding Proteins
/
Gene Frequency
/
Genetics
/
Hypospadias
Type of study:
Observational study
/
Prognostic study
/
Risk factors
Limits:
Child
/
Child, preschool
/
Humans
/
Infant
/
Male
Language:
Chinese
Journal:
National Journal of Andrology
Year:
2012
Type:
Article
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