title: [RFLP of a StuI site in the GALNS gene in Morquio Syndrome of Guangdong national minority population].
abstract: To investigate the genetic polymorphism of the StuI site in the GALNS gene from a national minority population in Guangdong and to study the mode of transmission of alleles,PCR-RFLP was used to analyze 144 chromosomes from 72 Guangdong unrelated healthy national minority individuals,and the genotypes of members in three families. To compare the frequencies and heterzygosity between Guangdong national minority people and Caucasians,Japanese and Chinese Han people by using chi2 test. The frequency of allele D1(295bp) was 0.70, allele D2(138 plus 157 bp)0.30, the heterozygosity was 29%. The genotypes of each member of all families detected were completely agreement with the theorical assessment. The site of StuI in the GALNS gene from national minority population in Guangdong has polymorphism. There is significant difference between Guangdong national minority population and Caucasians in Western countries, but no significant difference was found between Guangdong national minority population and Japanese and Chinese Han population. In addition,there is significant difference between Guangdong national minority population and Caucasians and Japanese in the heterzygosity, but no significant difference between Guangdong national minority population and Chinese Han population. The transmission of alleles was completely in agreement with the Mendelian genetic law.
authors.affiliation: Department of Medical Genetics, Sun Yat-sen University, Guangzhou 510080, China. guoyb@gzsums.edu.cn
authors.forename: Yi-Bin
authors.initials: YB
authors.lastname: Guo
authors.forename: Chuan-Shu
authors.initials: CS
authors.lastname: Du
authors.forename: Qun-Di
authors.initials: QD
authors.lastname: Lin