[A study on the (CA)n in XXXX gene in Han ethnic group in Guangxi Zhuang Autonomous Region by amplification polymorphisms combined with @entity575 staining].

@entity2801 @entity575 @entity447 @entity15773 @entity74 @entity1422
OBJECTIVE: @entity447 is an @entity74 caused by defects in @entity2801 ( @entity2801 ) gene. In the present study, the frequencies of the microsatellite alleles at introns 13 and 22 in the @entity2801 gene were analyzed in the group of Han nationality in Guangxi Zhuang Autonomous Region to explore their diagnostic value for @entity447 . These two sites were also used to detect the carriers in 13 @entity447 families. METHODS: Ninty-one individuals of Han ethnic group in Guangxi Zhuang Autonomous Region (135 X chromosomes) and 13 @entity15773 families were subjected to molecular studies. First, these two fragments were PCR amplified simultaneously. Then, @entity575 staining was used later to show their polymorphisms. The investigators selected one sample at random to obtain its lengths of the PCR products at these two sites by ABI310 PCR amplifier. After counting its repeated numbers of (CA) according to the documents concerned, the repeated numbers of the other samples could be counted easily. RESULTS: In the 91 individuals, 6 and 4 alleles were detected at these two sites, respectively. At intron 13 the allele frequencies ranged from 0.0002 to 0.5408 and polymorphism information content (PIC) was 0.5899. At intron 22 the allele frequencies ranged from 0.0444 to 0.4963 and its PIC was 0.5359. The actual heterozygosity for intron 13 and intron 22 were 0.6364 (28/44) and 0.5227 (23/44), respectively. In 13 @entity447 families with positive history, 9 of them were diagnosed by this method and the diagnosis rate was 69%. CONCLUSION: With high PICs, (CA)n at intron 13 and intron 22 were two valuable sites in the diagnosis of @entity447 in the population of Han ethnic group in Guangxi Zhuang Autonomous Region. Compared with some other @entity15773 restrictive fragment length polymorphisms (RFLP), intron 22 ( @entity1422 )n (AG)n was more informative.
