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한국인 집단에서 11번 염색체상의 anonymous hypervariable 좌위에 대한 대립유전자의 분포
이정주,홍성수,남궁용,채재진,김언경,고성호,김유섭 한국유전학회 1994 Genes & Genomics Vol.16 No.1
To investigate the genetic characteristic of Korean population, anonymous hypervariable or VNTR locus on chromosome 11 was analyzed and we determined its allele distribution, informativeness and suitability for DNA typing. Anonymous VNTR locus based on the allelic variation of a 31-bp tandem repeat was analyzed in 114 unrelated samples (Seoul) by using the probe2.1 as a probe. The result showed that PstI identifies multi-allele ranging in size from 2 kb to 21 kb with heterozygosity (H) of 0.973. For more conservative estimation of allele frequency distribution, arbitrary bin method was applied to this VNTR locus. The number of alleles of this locus observed in Korean population was higher than that of Caucasians. The genotypic data and test of Hardy-Weinberg equilibrium (HWE) for the anonymous VNTR locus. proposed as a parameter of population homogeneity, revealed a slightly high level of H and slight deviation from HWE of the Koreans relative to Caucasians. Also, from populational data for this VNTR locus, statistical weight was offered for the application in DNA typing field.
A Large Structural Rearrangement in the LDL Receptor Gene Causing Familial Hypercholesterolemia
박영배,김성한,이정주,홍성수,남궁용,채재진,한기훈 한국유전학회 1995 Genes & Genomics Vol.17 No.4
Familial hypercholesterolemia (FH) is a common autosomal dominant disorder caused by a defect in the low-density-lipoprotein (LDL) receptor, distrupting the normal control of cholesterol metabolism. Fourty-two unrelated heterozygotes for FH were screened to detect structural rearrangements in the LDL receptor gene. Genomic DNA was analyzed by Southern blot hybridization to probes encompassing exons 1-18 of the LDL receptor gene to detect large structural rearrangements. A novel deletion mutation was detected in a FH pedigree. Southern blot analysis using the exon-specific probes revealed that this mutation elimianted exons 9, 10, 11, and 12. Detailed restriction mapping and sequence analysis mediated long PCR demonstrated that this mutation was 5.72kb deletion extending from intron 8 to 12, and has occurred between two Alu-repetitive sequence that are in the same orientation, one in intron 8 and the other in intron 12. We suggest that in this patient the deletion is caused by an unequal crossing-over event that occured between two homologous chromosomes at meiosis.
가족성 고콜레스테롤 혈증 한국인 환자에서의 저비중 지단백 수용체 유전자의 돌연변이 분석
김효수(Hyo Soo Kim),채인호(In Ho Chae),박영배(Young Bae Park),최성준(Sung Choon Choe),한기훈(Ki Hoon Han),채재진(Jae Jin Chae),김성한(Sung Han Kim) 대한내과학회 1999 대한내과학회지 Vol.57 No.5
N/A Familial hypercholesterolemia (FH) is a common autosomal dominant disorder caused by a defect in the low-density-lipoprotein (LDL) receptor, disrupting the normal control of cholesterol metabolism. We have collected 86 FH families for over 5 years who met following Dx criteria 1) hypercholesterolemia over 280 mg/dl 2) Achilles tendon xanthoma thicker than 9 mm, and 3) familial tendency, and characterized the pattern of mutations in Korea FH patients. Method : Mutation was screened with linkage analysis into two ways; large structural rearrangements were screened by genomic Southern blotting or long-PCR technique, and small structural rearrangements were screened by PCR of each exon followed by SSCP analysis. The exact mutation sites were confirmed by sequencing. Result : 1) Large mutation : Three different large deletions(FH110, FH29, FH32) were found in 7(11.5%) among 61 families screened. FH110 was a deletion of 5.7kb from intron 8 to 12, which was found in 5 unrelated families. FH29 was a deletion of 3.8kb from intron 6 to 8, and FH32 was a deletion of 2kb from intron 6 to 7. These three deletions have not been reported previously. The mechanism of deletion was unequal crossover from mispairing Alu-sequences. 2) Small or point mutations : Nineteen different small mutations were found in 19(31.4%) among 86 families screened . These mutations comprised 9 missense, 3 nonsense, 2 splicing mutations, 3 small deletions, and 2 small insertions. One missense mutation (Pro664Leu) was found in 6 unrelated families. Among these mutations, 12 have not been reported previously.Conclusions : LDL receptor gene mutations are heterogeneous in Korean FH patients. We could not observe founder mutation but detect common mutations.(Korean. J. Med 57:881-895, 1999)