| Autor: |
Horinishi, Asako, Okubo, Minoru, Tang, Nelson L.S., Hui, Joannie, To, Ka-Fai, Mabuchi, Tomohito, Okada, Toshihide, Mabuchi, Hiroshi, Murase, Toshio |
| Předmět: |
|
| Zdroj: |
Journal of Human Genetics; 2002, Vol. 47 Issue 2, p55, 5p |
| Abstrakt: |
Abstract Glycogen storage disease type III (GSD III) is a rare autosomal recessive inherited disorder caused by a deficiency of the glycogen-debranching enzyme (AGL). We investigated two GSD III patients and identified four differ-ent mutations. Nucleotide sequence analysis revealed pa-tient 1 of Chinese descent to be a compound heterozygote for a novel nonsense mutation, R34X, and the splicing mu-tation (IVS32 - 2A > G) reported in a Japanese patient. Patient 2 of Japanese origin was found to be compound heterozygous for a novel nonsense mutation, Y1148X, and the splicing mutation (IVS1 + 1G > T) that we had de-scribed previously. To determine whether splicing muta-tions occurred independently, we performed intense AGL haplotype analysis using 21 intragenic polymorphic markers plus a novel polymorphism IVS3297 A/G in the vicinity of the IVS32 splicing mutation. Patient 1 of Chinese origin and the Japanese patient homozygous for the IVS3212A G were found to have different haplotypes, indicating the IVS3212A G mutation to be a recurrent mutation. This is the first recurrent mutation established by intense haplotyping in the AGL gene. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
|
