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  • 1
    Electronic Resource
    Electronic Resource
    Family studies of the LDL receptor gene of relatively severe hereditary hypercholesterolemia associated with Achilles tendon xanthomas (1991)
    Springer
    Human genetics 〈Berlin〉 86 (1991), S. 445-449 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary To assess the relationship between relatively severe hereditary hypercholesterolemia with Achilles tendon xanthomas and the defect of the low density lipoprotein (LDL) receptor gene, family studies were carried out in 17 hypercholesterolemic families. In 16 out of the 17 families, hypercholesterolemia co-segregated with four different gross rearrangements, six different restriction fragment length polymorphism (RFLP) haplotypes, or an abnormal TaqI band of the LDL receptor gene. These findings are compatible with the interpretation that hypercholesterolemia is caused by defective LDL receptor genes, and that the origin of the mutant LDL receptor genes in Japanese generally differs among different pedigrees. In the remaining family, the proband and his sibling, both having relatively severe hypercholesterolemia and Achilles tendon xanthomas, shared an RFLP haplotype, although the proband's other sibling with moderate hypercholesterolemia but without Achilles tendon xanthomas did not. The mutant gene for familial defective apolipoprotein B-100 was not detected in the 17 probands. These data suggest that most, if not all, of the relatively severe hereditary hypercholesterolemia associated with Achilles tendon xanthomas is caused by a defect of the LDL receptor gene.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00194631
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  • 2
    Electronic Resource
    Electronic Resource
    Three novel partial deletions of the low-density lipoprotein (LDL) receptor gene in familial hypercholesterolemia (1989)
    Springer
    Human genetics 〈Berlin〉 82 (1989), S. 317-321 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The low-density lipoprotein (LDL) receptor genes from 18 unrelated Japanese heterozygotes and 1 homozygote with classical familial hypercholesterolemia were analyzed by Southern blot hybridization using fragments of the human LDL receptor cDNA as probes. Four different deletion mutations were detected among 20 mutant LDL receptor genes (20%); they were characterized by restriction mapping. None of these mutations has previously been reported in Caucasian patients with FH: three of the mutations were novel and one was similar to the detetion mutation of FH-Tonami described previously in Japanese patients. In three of the four deletion mutations, the rearrangements were related to intron 15 of the LDL receptor gene, in which many Alu sequences exist. The data suggest that a wide range of molecular heterogeneity exists even in major rearrangements resulting in deletions in the LDL receptor gene. The data also support the hypothesis that there are preferential sites within the LDL receptor gene for major rearrangements resulting in deletions. The possibility that a higher frequency of deletion mutations occurs in classical FH than previously suspected is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273989
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  • 3
    Electronic Resource
    Electronic Resource
    TaqI polymorphism in the LDL receptor gene and a TaqI 1.5-kb band associated with familial hypercholesterolemia (1988)
    Springer
    Human genetics 〈Berlin〉 80 (1988), S. 1-5 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The low density lipoprotein (LDL) receptor gene was analyzed in 67 unrelated healthy Japanese and 38 members of six consecutive families with familial hypercholesterolemia (FH) by Southern blot hybridization with TaqI, an LDL receptor cDNA fragment containing exons 1 to 8 being used as a probe. A new TaqI RFLP at the LDL receptor locus was detected with allele frequencies of 0.67 and 0.33. The data obtained with smaller cDNA subfragment probes revealed that the TaqI RFLP site is located within 1.1 kb of the 5′ side of the EcoRI site of exon 5. The TaqI RFLP was in linkage disequilibrium with the PstI RFLP but showed no significant linkage disequilibrium with the RFLPs for AvaII, ApaLI/I15, PvuII, NcoI, and ApaLI/3′. Among the seven RFLPs at the LDL receptor locus, the TaqI RFLP was the only useful genetic marker in one of the six families with FH. Furthermore, the association of an additional TaqI 1.5-kb band with a mutant LDL receptor gene was observed in another family with FH in which the proband was homozygous for all of the seven RFLPs. The data obtained with various restriction enzymes and smaller cDNA subfragments probes suggested that a minor change in nucleotide sequences in the region including exons 5 to 8 is present in the mutant gene. These data suggest that the TaqI RFLP is a useful genetic marker at the LDL receptor locus and that TaqI serves for the analysis of some mutant LDL receptor genes, when used with small LDL receptor cDNA probes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00451446
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  • 4
    Electronic Resource
    Electronic Resource
    Frequencies of apolipoproteins E5 and E7 in apparently healthy Japanese (1985)
    Springer
    Journal of human genetics 30 (1985), S. 271-278 
    Details
    ISSN: 1435-232X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Human apolipoprotein (apo) E plays an important role in the metabolism of cholesterol and other lipids. Apo E5 and apo E7 are genetic variants of apo E and have been detected in about 5% of Japanese patients with hyperlipidemia and ischemic heart disease. The existence of apo E5 and apo E7, however, had not been reported in apparently healthy individuals except for a few family members of the patients with apo E5 or apo E7. It has been suggested that apo E5 and apo E7 are closely related to the development of atherosclerosis. The purpose of this study is to investigate the frequency of apo E5 and apo E7 in apparently healthy Japanese and to analyze serum lipid levels of the individuals with apo E5 or apo E7. The apo E phenotypes of 197 apparently healthy Japanese adults were determined by two-dimensional gel electrophoresis. The gene frequencies of apo E were: ∈3, 0.843; ∈4;0.112; ∈2, 0.038; ∈5, 0.006; ∈7, 0.00035. Three out of 187 subjects (1.5%) were found to have apo E5 or apo E7 in heterozygous state. Two of them were heterozygous with apo E3 (apo E3/5 and apo E3/7) and the both had normal serum lipid levels, though they were more than 50 years old. The other individual was heterozygous with apo E2 (apo E2/5) and had mild hypertriglyceridemia. As to myocardial infarction, angina pectoris and cerebral infarction, no clinically abnormal findings were detected in all the three individuals with apo E5 or apo E7. The data suggest that the frequency of the individuals with apo E5 or apo E7 is of the order of 1% and much higher than that of the homozygotes with apo E2/2 in Japanese. The data also indicate that further genetic, epidemiologic and clinical studies are required to determine whether ∈5 and ∈7 act as a dominant major gene, as a recessive major gene, or as one of polymeric genes, in predisposing one to hyperlipidemia and atherosclerosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01907964
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  • 5
    Electronic Resource
    Electronic Resource
    Apolipoprotein AI-CIII gene polymorphisms in Japanese myocardial infarction survivors (1987)
    Springer
    Journal of human genetics 32 (1987), S. 15-20 
    Details
    ISSN: 1435-232X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary To search for a linkage marker for the putative deleterious atherogenic gene in the apo AI-CIII-AIV gene complex in Japanese, apo CIIISst-I genotypes and apo AIMsp-I genotypes were investigated in 69 Japanese myocardial infarction survivors, using genomic hybridization analysis, and compared with the genotypes in 82 healthy subjects. Unlike the association of theS2 andM2 alleles with myocardial infarction found in Caucasians, there were no differences in both the frequencies of theS2 andM2 alleles between Japanese myocardial infarction survivors and healthy subjects. The individual with the haplotypeS1-M2, however, was significantly increased in myocardial infarction survivors compared with the one in healthy subjects (24%versus 11%; χ2=4.90, d.f.=1, p〈0.05). The data suggest that the haplotypeS1-M2 may be a linkage marker for the putative atherogenic gene or may show regional differences in the frequency in Japanese.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01876523
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  • 6
    Electronic Resource
    Electronic Resource
    Association of the apolipoprotein E4 allele with hypercholesterolemia in apparently healthy male adults in Tokyo (1987)
    Springer
    Journal of human genetics 32 (1987), S. 283-289 
    Details
    ISSN: 1435-232X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary This study was performed to investigate whether the apolipo-protein (apo) E4 allele is associated with hypercholesterolemia in Japanese male adults in large cities. The apo E phenotypes and serum lipid levels were analyzed on 142 apparently healthy male civil servants working in Tokyo. The prevalence of hypercholesterolemia (serum total cholesterol levels〉250 mg/dl) were 4.7% in 106 apo E4-absent subjects and 19.4% in 36 apo E4-present subjects (p=0.012). The prevalence of hypercholesterolemia were 5.3% in 94 subjects with the apo E3/3 phenotype and 20.0% in 30 subjects with the apo E3/4 phenotype (p=0.023). In addition, mean serum total cholesterol levels were significantly higher in the apo E4-present subjects than in the apo E4-absent subjects (213±29.1versus 199±36.0, p〈0.05). The data suggest that the apo E4 allele is associated with hypercholesterolemia in Japanese male adults working in large cities.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01910283
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  • 7
    Electronic Resource
    Electronic Resource
    The esterase D polymorphism: Analysis of esterase D 7 by two-dimensional gel electrophoresis (1984)
    Springer
    Journal of human genetics 29 (1984), S. 27-30 
    Details
    ISSN: 1435-232X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Qualitative and quantitative differences between the EsD 7 and EsD 1 subunits are analysed by two-dimensional gel electrophoresis. The molecular weight of the EsD 7 subunit is slightly smaller than that of the EsD 1 subunit. However, the pI of the EsD 7 subunit is indistinguishable from that of EsD 1 subunit. In the heterozygote with EsD 7-1, the amount of the EsD 7 subunit is very similar to that of the EsD 1 subunit. The results indicate that EsD 7 is a molecular weight variant and coded for by a new allele,EsD 7, distinct fromEsD 1 at EsD locus. The data also suggest that the amount of theEsD 7 product is similar to that of theEsD 1 product but that the specific activity of EsD 7 is very low compared with that of EsD 1.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01876754
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  • 8
    Electronic Resource
    Electronic Resource
    Apolipoprotein AI-CIII gene polymorphisms in a Japanese population (1986)
    Springer
    Journal of human genetics 31 (1986), S. 337-343 
    Details
    ISSN: 1435-232X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Apolipoprotein (apo) CIIISst-I genotypes and apo AIMsp-I genotypes were investigated in 82 unrelated healthy Japanese, using genomic hybridization analysis with a 2.2 kb fragment of the human apo AI gene. The frequencies of theS2 andM2 alleles were 0.34 and 0.40, respectively, and much higher than those in Caucasians. The alleles identified by the apo CIIISst-I and apo AIMsp-I polymorphisms were observed to be in linkage disequilibrium (Δ=0.206±0.012, p〈0.001). Three of the four possible haplotypes were identified: the frequencies of the haplotype wereS1−M1=0.604,S2−M2=0.34, andS1−M2=0.055. The data indicate that Japanese are characterized by the common presence of the haplotypeS2−M2 as compared with Caucasians and that the haplotypes identified by the apo CIIISst-I and apo AIMsp-I polymorphisms are useful genetic markers for Japanese.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01907933
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  • 9
    Electronic Resource
    Electronic Resource
    Apolipoprotein e phenotypes and serum lipid levels in apparently healthy male adults in Tokyo (1986)
    Springer
    Journal of human genetics 31 (1986), S. 15-20 
    Details
    ISSN: 1435-232X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary This study was performed to investigate whether the ɛ4 allele of the apolipoprotein (apo) E predisposes Japanese male adults in large cities to hyperlipidemia. The apo E phenotypes and serum total lipid levels were determined using blood samples obtained after an overnight fast from 85 apparently healthy Japanese male civil servants in Tokyo. The frequency of hyperlipidemia was 50.0% in 20 subjects with the apo E4-positive phenotype and 25.8% in 62 subjects with the apo E3/3 phenotype. The difference is statistically significant (p〈0.05). The mean (±SD) serum triglyceride levels, which were calculated on the subjects with serum triglyceride lower than 250 mg/dl, was 132.8±5.1 mg/dl in 18 subjects with the apo E4-positive phenotype and 108.4±43.0 mg/dl in 58 subjects with the apo E3/3 phenotype. The difference is also statistically significant (p〈0.05). The data suggest that the ɛ4 allele might predispose Japanese adults in large cities to hyperlipidemia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01876797
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