[Single nucleotide polymorphisms of the DGKK gene and hypospadias in Chinese children].

Objective: To investigate the role of single nucleotide polymorphisms of the gene of diacylglycerol kinase κ (DGKK) in hypospadias in Chinese children.

Methods: We performed direct sequencing on 2 hypospadias-related candidate single nucleotide polymorphisms of the DGKK gene (rs1934179 and rs7063116, never previously reported in the Chinese population) from 300 children with sporadic hypospadias and 200 healthy controls, and compared the results between the two groups.

Results: The mutation frequencies of rs1934179 and rs7063116 were 5.

[Single-nucleotide polymorphisms of MAMLD1 and hypospadias in Chinese].

Objective: To investigate the role of the MAMLD1 gene mutation in the pathogenesis of hypospadias in the Chinese population.

Methods: 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.