山梨医科大学雑誌　第9巻1号　021-025(1994)

Study of the HuP2 Gene in Patients with Waardenburg Syndrome

Zentaro YAMAGATA, Sumio IIJIMA, Moyra SMITH, Akio ASAKA

Abstract: The HuP2 gene, which is human homologue of the mouse Pax3 gene, was analyzed in two individuals with and one without Waardenburg syndrome type I (WSI) in a three gneration family. We mapped part of exon 5 of the HuP2 gene on the human chromosome 2 by the polymerase chain reaction (PCR) using human-hamster somatic cell hybrid DNA. The sequence of the HuP2 gene from the unaffected individual had about 90 and 100% nucleotide and amino-acid sequence homology respectively, with the mouse Pax3 sequence. On the other hand, the sequence of HuP2 exon 5 from patients affected with WSI had a substitution consisting of a change from adenine to thymine. This mutation changed threonine into serine. This mutation in HuP2 exon 5 gene might be responsible for WSI. This result also indicated that genetic heterogeneity is the cause of WSI, when other reports were taken into consideration.

Key words: Waardenburg syndrome, HuP2, Pax3, PCR, mutation




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