Determination to double mutations heterozygotes of F161S/EX6-96A→G in Kazak PKU

[Objective] To identify the double mutations of F161S/EX6-96A→G in Kazak Phenylketonuria(PKU). [Methods] Single strand conformation polymorphism (SSCP) essay and sequence analysis of the PCR product were used to ascertain the gene mutation. [Result] Single strand conformation polymorphism (SSCP) essay used to screen exons 3, exons 5, exons 6, exons 7, exons 11 and exons 12 of the patient, we find the differences in SSCP electrophoresis strips of the exons 5 and exons 6 compare to the normal. It is demonstrated from separating sequencing result to the two areas that A→T mutation happened on the site 482 of the patient′s exons 5 cDNA. It is F161S mutation. Meanwhile exons 6 has a A→T mutation on the site 611 of the cDNA. It is EX6-96A→G mutation. The patient is a double mutation heterozygotes of the F161S/EX6-96A→G. [Conclusion] It is the first report for the double mutation heterozygotes of the F161S/EX6-96A→G in Kazak PKU.