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Km-Phänotypen in Abstammungs- und Indentitätsgutachten
7.11. OCCURRENCE DANISH FAMILY
OF
AN
ASSUMED
SILENT
Mariann Thymann (Department of Serology, Medicine, Copenhagen, Denmark)
HAPTOGLOBIN
University
Institute
GENE
IN
A
of Forensic
The Hp” gene only occurs with a very low frequency in Caucasians. However, a Danish family with an apparently silent Hp gene was observed, as opposed homozygous Hp phenotypes were found in three generations.
7.12. Gm AND Km GROUPING: INHIBITION TECHNIQUE
SOME
OBSERVATIONS
S. Khalap (The Metropolitan Police Forensic Lambeth Road, London SE1 7LP, Gt. Britain)
ON
Science
AN
ABSORPTION-
Laboratory,
109
The Gm and Km markers are detected in dried bloodstains and stains of other body fluids by an absorption-inhibition technique. Studies have been conducted to increase the sensitivity of the method so that less stained material could be used. In this paper a series of experiments are described where a range of anti-D dilutions was used for sensitization. These various batches of sensitized red cells were then used to titrate the Gm and Km antisera and in the absorption-inhibition tests. It was observed that if less anti-D were used for sensitization, the sensitivity of the inhibition test was greatly increased. This enabled the detection of the Gm( l), Gm(2), Gm(3), Gm( 10) and Km( 1) markers in smaller amounts of bloodstain.
UNGEWOHNLICHE 7.13. IDENTITATSGUTACHTEN
Gm/Km-PHANOTYPEN
IN
J. Her&e und M. Basler (Institut fiir Rechtsmedizin dorf, Moorenstrasse 5, 4000 Dusseldorf, B.R.D.)
ABSTAMMUNGS-
UND
der Universitht
Diissel-
Es wird von ungewijhnlichen Gm/Km-Phanotypen berichtet, die in unserem Material von serologischen Abstammungs- und Identitatsgutachten beobachtet wunlen. Die Allotypen Gm(l), Gm(Z), Gm(3), Gm(lO), Km(l) die Allotypen Gni(5) und Gm(21) und Km(3) werden routinemlssig, fakultativ, bestimmt. Dadurch gelingt es, discordante Vererbungen von Faktoren zu erkennen und man erhalt die Miiglichkeit, die Ursachen hierfiir eingehend zu untersuchen. Anhand einiger Falldarstellungen werden Phanotypen mit den Faktorenkombinationen Gm(1, -21), Gm(3, -lo), Gm(3,10), Km(1, -3) vorgestellt .
291
Die Vererbungsweise biostatistische Bilanzierung
7.14. IDENTIFICATION OF ISOELECTRIC FOCUSING
wird erlautert und dieser Sonder-Befunde
SEVEN
auf Auswirkungen hingewiesen.
TRANSFERRING
ALLELE
auf die
SUBTYPES
BY
P. Kiihnl’, W. Spielmann’ and J. Constans (lInstitut fiir Immunhamatologie, Universitht Frankfurt/Main, Sandhofstrasse 1, 6000 Frankfurt/Main, F.R.G.; and 2Centre Hemotypologie du CNRS, CHU Purpan, Ave. Grande Bretagne, 31052 Toulouse Cedex, France)
The extended polymorphism of human transferrin (Tf) has been investigated by an improved method of isoelectric focusing (IEF) on polyacrylamide gels. IEF of human sera (diluted l/5 in a 0.25% ferrous ammonium sulphate X 6H,O solution, incubation for 18 h at +4 “C) on 0.5 mm flat bed gels for 5 h at +lO “C yielded an excellent separation pattern of Tf bands. The gene products of seven subtypes of the Tfc allele were identified as well as the TfB and TfD variants on narrow-range pH 5 - 7 gels after staining with Coomassie Brillant Blue R 250. The sequence of the p1 values of the seven subtypes from anode to cathode (C4, Cl, C3, C5, C2, C6 and C7) reflects the order of their detection and might be subject to a redesignation, as it has been possible in the system of the group-specific component (Gc globulin). A population study in Hessen, Germany revealed that only Tf “, Tf c2 and TfC3 occur at polymorphic allele frequencies (0.7711, 0.1581 and 0.0611, respectively, at II = 876). TfC4 is an apparently race-specific polymorphic allele in North American, Bolivian and Brazilian Indians (0.035), Tf c5 in U.S. Blacks (0.015), TfC6 in North Africans from Algeria (0.03), whereas Tf c7 is rare in Southern France (Toulouse area). A comparison of IEF data for TfC subtype allele frequencies in various Caucasoid populations shows good agreement between the results of different authors. Family investigations have proven an autosomal codominant way of inheritance for all seven Tf c alleles. We feel that the standardized procedure of pretreatment of sera with iron solution and subsequent IEF separation at pH 5 - 7 markedly extends the Tf polymorphism and raises the single exclusion chance for non-fathers in affiliation cases from 1% (SGE or AGE techniques) to 17%. In addition, the increased heterozygosity should facilitate the localization of the Tf locus on the human gene map.
7.15. DER POLYMORPHISMUS DER VIERTEN KOMPLEMENTKOMPONENTE (C4) UND SEINE EIGNUNG FijR DIE VATERSCHAFTSBEGUTACHTUNG
U. Hintzen’ und W. Luboldt2 S. Schoeps’, V. Schlicht’, Elisabeth-Krankenhaus Essen; und fiir Laboratoriumsmedizin, 2Blutspendedienst der Universitat Essen, Essen, B.R.D.)
J. Bertrams’,
(’Abteilung
OF
AN
ASSUMED
SILENT
Mariann Thymann (Department of Serology, Medicine, Copenhagen, Denmark)
HAPTOGLOBIN
University
Institute
GENE
IN
A
of Forensic
The Hp” gene only occurs with a very low frequency in Caucasians. However, a Danish family with an apparently silent Hp gene was observed, as opposed homozygous Hp phenotypes were found in three generations.
7.12. Gm AND Km GROUPING: INHIBITION TECHNIQUE
SOME
OBSERVATIONS
S. Khalap (The Metropolitan Police Forensic Lambeth Road, London SE1 7LP, Gt. Britain)
ON
Science
AN
ABSORPTION-
Laboratory,
109
The Gm and Km markers are detected in dried bloodstains and stains of other body fluids by an absorption-inhibition technique. Studies have been conducted to increase the sensitivity of the method so that less stained material could be used. In this paper a series of experiments are described where a range of anti-D dilutions was used for sensitization. These various batches of sensitized red cells were then used to titrate the Gm and Km antisera and in the absorption-inhibition tests. It was observed that if less anti-D were used for sensitization, the sensitivity of the inhibition test was greatly increased. This enabled the detection of the Gm( l), Gm(2), Gm(3), Gm( 10) and Km( 1) markers in smaller amounts of bloodstain.
UNGEWOHNLICHE 7.13. IDENTITATSGUTACHTEN
Gm/Km-PHANOTYPEN
IN
J. Her&e und M. Basler (Institut fiir Rechtsmedizin dorf, Moorenstrasse 5, 4000 Dusseldorf, B.R.D.)
ABSTAMMUNGS-
UND
der Universitht
Diissel-
Es wird von ungewijhnlichen Gm/Km-Phanotypen berichtet, die in unserem Material von serologischen Abstammungs- und Identitatsgutachten beobachtet wunlen. Die Allotypen Gm(l), Gm(Z), Gm(3), Gm(lO), Km(l) die Allotypen Gni(5) und Gm(21) und Km(3) werden routinemlssig, fakultativ, bestimmt. Dadurch gelingt es, discordante Vererbungen von Faktoren zu erkennen und man erhalt die Miiglichkeit, die Ursachen hierfiir eingehend zu untersuchen. Anhand einiger Falldarstellungen werden Phanotypen mit den Faktorenkombinationen Gm(1, -21), Gm(3, -lo), Gm(3,10), Km(1, -3) vorgestellt .
291
Die Vererbungsweise biostatistische Bilanzierung
7.14. IDENTIFICATION OF ISOELECTRIC FOCUSING
wird erlautert und dieser Sonder-Befunde
SEVEN
auf Auswirkungen hingewiesen.
TRANSFERRING
ALLELE
auf die
SUBTYPES
BY
P. Kiihnl’, W. Spielmann’ and J. Constans (lInstitut fiir Immunhamatologie, Universitht Frankfurt/Main, Sandhofstrasse 1, 6000 Frankfurt/Main, F.R.G.; and 2Centre Hemotypologie du CNRS, CHU Purpan, Ave. Grande Bretagne, 31052 Toulouse Cedex, France)
The extended polymorphism of human transferrin (Tf) has been investigated by an improved method of isoelectric focusing (IEF) on polyacrylamide gels. IEF of human sera (diluted l/5 in a 0.25% ferrous ammonium sulphate X 6H,O solution, incubation for 18 h at +4 “C) on 0.5 mm flat bed gels for 5 h at +lO “C yielded an excellent separation pattern of Tf bands. The gene products of seven subtypes of the Tfc allele were identified as well as the TfB and TfD variants on narrow-range pH 5 - 7 gels after staining with Coomassie Brillant Blue R 250. The sequence of the p1 values of the seven subtypes from anode to cathode (C4, Cl, C3, C5, C2, C6 and C7) reflects the order of their detection and might be subject to a redesignation, as it has been possible in the system of the group-specific component (Gc globulin). A population study in Hessen, Germany revealed that only Tf “, Tf c2 and TfC3 occur at polymorphic allele frequencies (0.7711, 0.1581 and 0.0611, respectively, at II = 876). TfC4 is an apparently race-specific polymorphic allele in North American, Bolivian and Brazilian Indians (0.035), Tf c5 in U.S. Blacks (0.015), TfC6 in North Africans from Algeria (0.03), whereas Tf c7 is rare in Southern France (Toulouse area). A comparison of IEF data for TfC subtype allele frequencies in various Caucasoid populations shows good agreement between the results of different authors. Family investigations have proven an autosomal codominant way of inheritance for all seven Tf c alleles. We feel that the standardized procedure of pretreatment of sera with iron solution and subsequent IEF separation at pH 5 - 7 markedly extends the Tf polymorphism and raises the single exclusion chance for non-fathers in affiliation cases from 1% (SGE or AGE techniques) to 17%. In addition, the increased heterozygosity should facilitate the localization of the Tf locus on the human gene map.
7.15. DER POLYMORPHISMUS DER VIERTEN KOMPLEMENTKOMPONENTE (C4) UND SEINE EIGNUNG FijR DIE VATERSCHAFTSBEGUTACHTUNG
U. Hintzen’ und W. Luboldt2 S. Schoeps’, V. Schlicht’, Elisabeth-Krankenhaus Essen; und fiir Laboratoriumsmedizin, 2Blutspendedienst der Universitat Essen, Essen, B.R.D.)
J. Bertrams’,
(’Abteilung