17a-Hydroxylase/17

New compound heterozygous mutations of p. Thr101Ilefs*2 and p. Thr306Ale in a child from a Chinese family with 17α-hydroxylase/17, 20-lyase deficiency

H. Xiao, Zhang, H., Li, T., Wu, D., Qin, L. T., Wang, T., Zhang, B., and Liao, S. X., New compound heterozygous mutations of p. Thr101Ilefs*2 and p. Thr306Ale in a child from a Chinese family with 17α-hydroxylase/17, 20-lyase deficiency, vol. 14, pp. 9318-9324, 2015.

We determined whether a child with 17α-hydroxylase/17, 20-lyase deficiency possessed the sex-determining region (SRY) gene, and examined the mutations present in the CYP17A1 gene that led to 17α-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.

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