Mutation

Prenatal diagnosis of Chinese families with phenylketonuria

N. Liu, Kong, X. D., Zhao, D. H., Wu, Q. H., Li, X. L., Guo, H. F., Cui, L. X., Jiang, M., and Shi, H. R., Prenatal diagnosis of Chinese families with phenylketonuria, vol. 14, pp. 14615-14628, 2015.

The aim of this study is to investigate the ability to prenatally diagnose phenylketonuria (PKU) by using phenylalanine hydroxylase (PAH) gene mutation analysis combined with short tandem repeat (STR) linkage analysis in 118 fetuses from 112 Chinese families. Genomic DNA was extracted from the peripheral blood from members of 112 families and the exons and exon-intron boundaries of the PAH gene were amplified by PCR. PCR products were analyzed by bi-directional Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA).

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