期刊
JOURNAL OF HUMAN GENETICS
卷 50, 期 7, 页码 357-359出版社
SPRINGER TOKYO
DOI: 10.1007/s10038-005-0258-4
关键词
sanfilippo type B syndrome; mucopolysaccharidosis type IIIB; alpha-N-acetylglucosaminidase (NAGLU); Founder effect
Sanfilippo type B syndrome (mucopolysaccharidosis type IIIB; MPS IIIB) is an autosomal recessive lysosomal storage disorder that is caused by defective alpha- N-acetylglucosaminidase (NAGLU). We performed NAGLU gene analysis in five patients with MPS IIIB whose respective parents from the Okinawa islands in Japan were not apparently consanguineous. We found a missense mutation (R565P) in all five patients (all homozygotes). We screened this mutation in 200 healthy subjects and found one heterozygote (none of the subjects were related to the patients). These results suggest that there may be a founder effect that results in the accumulation of R565P mutation in this area.
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