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  • 1995-1999  (3)
  • 1
    Electronic Resource
    Electronic Resource
    Characterization of mutants of the vitamin D-binding protein/group-specific component: molecular evolution of GC*1A2 and GC*1A3, common in some Asian populations (1995)
    Springer
    Human genetics 〈Berlin〉 95 (1995), S. 507-512 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A well defined polymorphism of vitamin D-binding/ group-specific component (GC) resides in exon 11. To characterize the molecular basis of GC*1A2 and GC*1A3, common in some Asian populations, we analyzed all coding exons amplified by the polymerase chain reaction. GC*1F was divided into GC*1Fc and GC*1FT by a C-T transition in the third nucleotide of the codon (TGC/T) for cysteine283 in exon 8. The sequencing of exons 8 and 11 showed that GC*1A2 and GC*1A3 had occurred on a GC*1Fc genetic background. They also shared a substitution of cysteine (TGC) for arginine (CGC) at position 429 in exon 11. GC*1A2 was characterized by having glycine (GGC) instead of serine (AGC) at position 335 in exon 9. GC*1A2 evolved from GC*1FT by three mutational events, i.e. GC*1FT→GC*1Fc→GC*1A3→ GC*1A2. No evidence was obtained for the existence of the duplicated gene GC*1F · 1A2 suggested by isoelectric focusing (IEF) of serum samples. The idea that the characteristic banding pattern of GC*1F · 1A2 after IEF results from partial formation of a disulfide bond in the additional cysteine at position 429 is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00223861
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Molecular basis of inter-alpha-trypsin inhibitor heavy chain H1 (ITIH1) polymorphism (1995)
    Springer
    Human genetics 〈Berlin〉 95 (1995), S. 435-436 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A genetic polymorphism of the inter-alpha-trypsin inhibitor heavy chain H1 (ITIH1) was analyzed at the nucleic acid level. Three common alleles, ITIH1*1, ITIH1*2 and ITIH1*3, were characterized by mutations at codons 551 and 561 in exon 14. ITIH1*1 was characterized by GAG (Glu) at codon 551 and CAG (Gln) at codon 561, ITIH1*2, by GTG (Val) and CGG (Arg), and ITIH1*3, by GAG (Glu) and CGG (Arg).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00208970
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Determination of the HUMTH01 alleles by the APLP method (1999)
    Springer
    International journal of legal medicine 112 (1999), S. 134-135 
    Details
    ISSN: 1437-1596
    Keywords: Key words HUMTH01 ; STR polymorphism ; Allele specific primer ; APLP method
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Notes: Abstract We present a simple and rapid technique for determination of alleles at the HUMTH01 locus. The amplified product length polymorphism (APLP) method using two primers different in length, permits the differentiation between allele 9.3 and other alleles. The primers were designed to have an allele-specific nucleotide at the 3′ terminal and 11 non-complementary nucleotides were added to the 5′ terminal of one of the primers for the allele 9.3. The amplified fragment sizes for the alleles 9.3 and 10 were 80 bp and 70 bp, respectively. This method has proved to be very useful for forensic applications.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004140050216
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    Paper (German National Licenses)
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