Résumé
OBJECTIVE: The purpose of this study was to investigate the methods for analysis of restriction fragment length polymorphisms of hemophilia B (coagulation factorIX) gene in Korean population. METHODS: Genomic DNAs were extracted from 40 Korean females. In order to amplify genomic DNAs at the region of the polymorphic sites, two sets of primers (Hha I and Dde I) were synthesized. The primers were named as FIX1, FIX2 for Hha I, and Dde I 59, Dde I 39 for Dde I, respectively. Hha I primers annealed 3'-flanking region of the FactorIX gene and amplified 230 bp long fragment. The PCR fragment (230 bp) treated with Hha I endonuclease produced two fragments (150 bp and 80 bp), when the polymorphic site existed. Dde I primers annealed the region of the first intron of Factor IX gene and amplified 319 bp long fragments. People cases with Dde I polymorphic site are supposed to produce 369 bp long fragment. Results: It has been found that seven (14 X chromosomes) out of forty individuals showed Hha I polymorphism. However, none of the experimental People cases showed the Dde I polymorphism. CONCLUSIONS: By the analysis of 80 chromosomes, the PICs calculated from allele frequency of Hha I-RFLP (0.175/0.825) and that of Dde I-RFLP (0.0/1.0) were 0.289=[1-(0.1752+0.8252)] and 0=[1-(02+12)], respectively. From these results, it can be postulated that Hha I and Dde I polymorphisms of the Factor IX gene in Korean exhibited different patterns from those of Caucasian.
Sujets)
Femelle , Humains , Facteurs de la coagulation sanguine , Coagulation sanguine , 1,1-Dichloro-2,2-bis(4-chlorophényl)éthylène , ADN , Facteur IX , Fréquence d'allèle , Gènes vif , Hémophilie B , Introns , Réaction de polymérisation en chaîne , Polymorphisme de restrictionRésumé
Turner syndrome with abnormalities of X chromosome is generally characterized by gonadal dysgenesis causing premature ovarian failure, primary and secondary amenorrhea. Premature ovarian failure is often caused by X chromosome aberrations. It has been shown that gross X chromosome abnormalities such as monosomy X usually result in primary amenorrhea and poor pubertal development, whereas mild X chromosome abnormalities such as partial X deletions usually lead to secondary amenorrhea and fairly good pubertal development. Fertility has been reported in several patients with relatively small Xq deletions before the onset of premature ovarian failure, and the X chromosome abnormality is often inherited by offspring. We describe a 46,X,del(X)(q26) female with normal pregnancy, in whom same karyotype was found in the fetus by amniocentesis. We report this case with brief review of related literatures.
Sujets)
Femelle , Humains , Grossesse , Aménorrhée , Amniocentèse , Fécondité , Foetus , Dysgénésie gonadique , Caryotype , Femmes enceintes , Insuffisance ovarienne primitive , Syndrome de Turner , Chromosome XRésumé
No abstract available.
Sujets)
Femelle , Grossesse , Chorion , Prélèvement de villosités choriales , Villosités chorialesRésumé
OBJECTIVE: The study was conducted to calculate the heterozygote frequencies of factr VIII gene in Korea, using two PCR-RFLPs(intron 18-Bcl I ploymorp[hism and intron 19-Hind III polymorphism). STUDY DESIGN: Twenty six women and five men were examined. Each segment of genomic DNA in intron 18 and intron 19 was amplified with polymerase chain reaction, digested with the Bcl I and Hind III, respectively. The heterozygote frequencies were calculated from the allele frequencies observed in each PCR-RFLP. RESULTS: The Bcl I polymorphism of the factor VIII gene was detected on agarose gel as segments of 434 bp and 286 bp/148 bp, respectively,The heterozygote frequency calculated from the allele frequencies(0.75/0.25) observed in intron 18-Bcl I polymorphism was 38%. In case of intron 19-Hind III polymorphism, two allele system with polymorphic bands of 250 bp and 160 bp/;90 bp was detected on polyacrylamide gel. The heterozygote frequency calculated from the allele frequencies(0.81/0.19) observed in intron 19-Hind III polymorphism was 31%. Thus, the two intragenic polymorphism predicted to be informative was 57% in this study. CONCLUSION: Multipoint linkage analysis using multiple PCR-RFLP provides highly useful method for the detection of the heterozygote of factor VIII gene.
Sujets)
Femelle , Humains , Mâle , Allèles , ADN , Facteur VIII , Fréquence d'allèle , Hétérozygote , Introns , Corée , Réaction de polymérisation en chaîne , AgaroseRésumé
OBJECTIVE: The study was conducted to calculate the heterozygote frequencies of factr VIII gene in Korea, using two PCR-RFLPs(intron 18-Bcl I ploymorp[hism and intron 19-Hind III polymorphism). STUDY DESIGN: Twenty six women and five men were examined. Each segment of genomic DNA in intron 18 and intron 19 was amplified with polymerase chain reaction, digested with the Bcl I and Hind III, respectively. The heterozygote frequencies were calculated from the allele frequencies observed in each PCR-RFLP. RESULTS: The Bcl I polymorphism of the factor VIII gene was detected on agarose gel as segments of 434 bp and 286 bp/148 bp, respectively,The heterozygote frequency calculated from the allele frequencies(0.75/0.25) observed in intron 18-Bcl I polymorphism was 38%. In case of intron 19-Hind III polymorphism, two allele system with polymorphic bands of 250 bp and 160 bp/;90 bp was detected on polyacrylamide gel. The heterozygote frequency calculated from the allele frequencies(0.81/0.19) observed in intron 19-Hind III polymorphism was 31%. Thus, the two intragenic polymorphism predicted to be informative was 57% in this study. CONCLUSION: Multipoint linkage analysis using multiple PCR-RFLP provides highly useful method for the detection of the heterozygote of factor VIII gene.
Sujets)
Femelle , Humains , Mâle , Allèles , ADN , Facteur VIII , Fréquence d'allèle , Hétérozygote , Introns , Corée , Réaction de polymérisation en chaîne , AgaroseRésumé
No abstract available.
Sujets)
Hyperplasie congénitale des surrénales , Diagnostic prénatal , Steroid 21-hydroxylaseRésumé
No abstract available.
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No abstract available.
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No abstract available.
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No abstract available.
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Lignée cellulaire , Hormone de libération des gonadotrophines , Acétate de médroxyprogestérone , Médroxyprogestérone , TamoxifèneRésumé
No abstract available.
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No abstract available.
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No abstract available.
Sujets)
Humains , Mâle , Syndrome d'insensibilité aux androgènes , FratrieRésumé
No abstract available.