Linkage and Association Studies of Two Phosphoglucomutase Loci (PGM&lt;sub&gt;1&lt;/sub&gt; and PGM&lt;sub&gt;3&lt;/sub&gt;) to Eighteen Other Markers Analysis of the Segregation at the Marker Loci

Lamm, L. U.; Kissmeyer‐Nielsen, F.; Henningsen, Knud W.

doi:10.1159/000152326

Cited by 26 publications

(4 citation statements)

References 16 publications

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“…Although AK polymorphism was described fairly recently, many popu lations have been investigated for this trait [1,2,7,8,13,14,16,19,22,24,27,35].…”

Section: Discussionmentioning

confidence: 99%

Red Cell Adenylate Kinase and Phosphoglucomutase Polymorphisms in Several Population Groups in Israel

Szeinberg¹,

Tomashevsky-Tamir²

1971

Hum Hered

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The genetic polymorphism of red cell adenylate kinase (AK) and phosphoglucomutase (PGM₁) has been investigated in five population groups in Israel: Ashkenazi Jews, non-Ashkenazi Jews from Iraq, Yemen, North-Africa, and Arabs. The lowest frequency of the AK² gene was observed among the Arabs (0.0247) and the highest among the North African Jews (0.0559). A heterogeneity test performed for the five population samples did not reach the level of statistical significance. The distribution of PGM genes was found to be heterogeneous. A significantly lower frequency of the PGM₁ gene was observed among the Ashkenazi Jews (0.2081) than among the three non-Ashkenazi Jewish groups and Arabs (gene frequencies 0.2708–0.3198). Similar differences have been reported to exist between Mediterranean populations (Greece, Italy, Turkey) and those from Western or Northern Europe.

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“…Although AK polymorphism was described fairly recently, many popu lations have been investigated for this trait [1,2,7,8,13,14,16,19,22,24,27,35].…”

Section: Discussionmentioning

confidence: 99%

Red Cell Adenylate Kinase and Phosphoglucomutase Polymorphisms in Several Population Groups in Israel

Szeinberg¹,

Tomashevsky-Tamir²

1971

Hum Hered

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“…i.e., an excess of Hp 2-2 children. In recent Scandinavian studies Heiken et al [1969] drew attention to a segregation distortion in 2-1 *2-2 matings, and found that the excess of Hp 2-1 children was greater in the male 2-2 x female 2-1 mating than in the reciprocal male 2-1 x female 2-2, and Lamm [1970] found the same distortion in a series from Aarhus. More recently still, Moullec et al [1971] in an analysis of 286 families, found a significant deficiency of Hp 2-1 children born to 2-1 x2-2 matings and an excess of Hp 2-1 children in 2-2 x 2-1 matings.…”

Section: Introductionmentioning

confidence: 92%

A Segregation Analysis of the Association of Haptoglobin Types and ABO Blood Groups

MacDonald¹,

Papiha²

1974

Hum Hered

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“…I t is, in fact, through a combination of family studies and studies of somatic cell hybrids th a t the HLA region has been assigned to chromosome 6. Thus, family studies first showed th a t the HLA region was linked to the polymorphic enzyme marker phosphoglucomutase-3 (PGM 3) (Lamm et at. 1970(Lamm et at.…”

Section: I977)*mentioning

confidence: 99%

Genetics of HLA: the major human histocompatibility system

Bodmer

Jones

Barnstable

et al. 1978

Proc. R. Soc. Lond. B.

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The HLA system was first defined as a cell surface genetic polymorphism with the aim of using it for transplantation matching. The originally defined specificities of the system, usually identified by a microcytotoxicity assay on peripheral blood lymphocytes, are controlled by the alleles of three closely linked loci HLA-A, B and C. These loci are highly polymorphic with at least 19 A alleles, 26 B alleles and 5 C alleles defined. There is extensive cross reaction amongst the determinants controlled by each locus, though not usually between loci. Skin or kidney grafts exchanged between HLA-A, B and C identical sibs survive much longer than those between unmatched sibs showing that the HLA system is indeed a histocompatibility system. The mixed lymphocyte culture reaction has been shown to be controlled by a series of alleles at a fourth locus, closely linked to A, B and C, the HLA-D locus. Eight alleles have been identified at this locus by use of the mixed lymphocyte culture reaction as a typing procedure. The H-2 system, the mouse equivalent of HLA, has been shown to encompass genes controlling certain immune responses, in addition to those controlling cell surface determinants equivalent to those controlled by the HLA-A, B and C loci. Genes controlling the second and fourth components of complement and factor B of the alternative pathway have also been assigned to the HLA and H-2 regions. The evidence for the existence of immune response genes in man is mainly indirect and comes from a number of striking associations between HLA and certain diseases, a number of which have a presumptive or suspected auto-immune etiology. In the mouse, a series of antigens called Ia for immune associated, have been defined which have a tissue distribution restricted mainly to B lymphocytes and monocytes. This contrasts with the distribution of the HLA-A, B and C antigens and their mouse equivalents, which are present on virtually all tissues except, generally, red cells in man. A variety of approaches are being used to define the human homologues of the mouse Ia antigens. They depend on the use of an appropriate source of B lymphocytes either purified from the peripheral blood, from patients with chronic lymphocytic leukaemia or from B cell derived transformed cell lines. Cytotoxic assays by using blocking techniques or absorption with platelets, which do not have Ia antigens, can produce sera which will react with the human equivalent of Ia antigens, but not to HLA-A, B and C determinants. Using such sera several human Ia determinants have been defined. These have been shown to be associated closely with the HLA-D determinants identified by the mixed lymphocyte culture reaction and there is much evidence to suggest that the Ia and D determinants may in fact be one and the same. As in the case of the HLA-A, B and C determinants, there is extensive cross-reaction among these newly defined Ia antigens. A combination of family studies and somatic cell genetics has shown that the HLA region is located on chromosome 6. The gene for β 2 microglobulin, the polypeptide which is non-covalently bound to the product of the HLA-A, B and C loci, has, however, been shown by the use of human/mouse somatic cell hybrids to be located on chromosome 15. A series of such hybrids showing all possible combinations of presence and absence of chromosomes 6 and 15 and presence and absence of HLA-A and B specificities and β 2 microglobulin has been obtained. In these hybrids the expression of the HLA-A and B antigens has been shown to depend on their association with mouse β 2 microglobulin, in the absence of human β 2 microglobulin. Further investigation of co-expression of β 2 m and of HLA-A and B products has depended on studies of hybrids made with the Daudi cell line which lacks β 2 m and HLA-A, B or C specificities. Hybrids between Daudi and the HeLa derivative D98/AH-2 express determinants of the A and B loci which must be attributed to Daudi. Two of these determinants have also been found in hybrids made between Daudi and a mouse L cell derivative containing only one copy of Daudi’s chromosome 6. These results show that the HLA-A and B determinants of Daudi can be re-expressed in the presence of either human or mouse β 2 m and suggest that control of expression of HLA-A, B and C products is somehow dependant on β 2 microglobulin. The HLA system is a remarkable example of a complex gene cluster containing probably several hundreds at least, if not a few thousand, loci, and has probably arisen by a series of duplication events.

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Linkage and Association Studies of Two Phosphoglucomutase Loci (PGM<sub>1</sub> and PGM<sub>3</sub>) to Eighteen Other Markers Analysis of the Segregation at the Marker Loci

Cited by 26 publications

References 16 publications

Red Cell Adenylate Kinase and Phosphoglucomutase Polymorphisms in Several Population Groups in Israel

Red Cell Adenylate Kinase and Phosphoglucomutase Polymorphisms in Several Population Groups in Israel

A Segregation Analysis of the Association of Haptoglobin Types and ABO Blood Groups

Genetics of HLA: the major human histocompatibility system

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