Study On The(CA)n In The FVIII Gene In Chinese Group And Its Application To Hemophilia A Diagnosis

In the present study, the frequences of themicrosatellite alleles at intron 13 and 22 in the factorVIII (FVIII) gene were analyzed in both healthyChinese group and heamophilia A families in order tocompare the difference betWeen the tWo populationswhich include 56 individuals (83 X chromosomes) and35 famiIies (90 individuals, 127 X chromosomes,including one femaIe patience) respectively. Amp-FLPcombining Silver Staining was used. With this method,eleven historied families were subjected to molecuIarstudies. l4 of 2l femaIes were confirmed to be carriersand approximateIy 72.7%(8 of 11) families have foundto be infOrmative. 6 and 4 alleIes were detected at thesetwo sites in both of the groups. For HA group, the aIIeIefrequencies ranged from 0.0286 to 0.4857 at intron 13and from 0.057l to 0.4857 at intron 22. As to the health,0.0241 to 0.5060 and 0.0l20 to 0.5783 respectively. Thestudy also showed that there isn't obviously differencebetween the tWo groups mentioned above at these tWogene sites (X&'=11'1770, pA=0'0831>0.05; X.'==2'6739,pB=0'4444>0.05 ). The modifications adopted in thisstudy fOr the multipIex PCR anaIysis of themicrosatellite repeat polymorphism eliminated the useof radioactivity and sequencing gels, reducing cost andlabor.