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1.
Gene Geogr ; 2(2-3): 141-57, 1988.
Artículo en Inglés | MEDLINE | ID: mdl-3154133

RESUMEN

Blood group systems ABO, RH, MNS, KEL, FY, LU and P, red cell enzymes ACP1, PGM1, PGM2, ADA, DIA and PHI, serum markers GC, HP, IGHG1, IGHG3 and IGK were examined in about 900 individuals sampled in 11 Sardinian isolates. The genetic differentiation turned out to be relatively high and the relevance of selected and neutral genes has been evaluated.


Asunto(s)
Antígenos de Grupos Sanguíneos/genética , Heterocigoto , Polimorfismo Genético , Adolescente , Alelos , Femenino , Frecuencia de los Genes , Marcadores Genéticos , Humanos , Italia , Masculino , Linaje
2.
Exp Clin Immunogenet ; 5(1): 24-38, 1988.
Artículo en Inglés | MEDLINE | ID: mdl-3272813

RESUMEN

In this work, eight family studies were conducted to establish the suspected unusual Gm* haplotypes in 13 persons (among 418) showing uncommon Gm phenotypes. Usually, the Gm (21 and 28)--or Gm (g1 and g5)--allotypes are both present or absent. Exceptions to this rule were observed: on the one hand, only the Gm (28) allotype was present in 12 persons, and on the other hand, only the Gm (21) allotype was found in 1 person. Such events could be explained, in some cases, by equal crossovers or point mutations, and, more generally and very likely, by gene conversions. Other interesting results are also presented, as, on the one hand, silent genes homozygous at the C gamma 4 locus and, on the other hand, a homozygous multigene deletion encompassing the C alpha 1, psi gamma, C gamma 2 and C gamma 4 loci.


Asunto(s)
Alotipos de Inmunoglobulina Gm/genética , Cromatografía de Afinidad , Deleción Cromosómica , Femenino , Genética de Población , Haplotipos , Humanos , Alotipos de Inmunoglobulina Gm/análisis , Masculino , Linaje , Fenotipo , Túnez
3.
Exp Clin Immunogenet ; 5(1): 1-14, 1988.
Artículo en Inglés | MEDLINE | ID: mdl-3155402

RESUMEN

The Gm, Am and Km allotypes have been investigated in 405 sera from unrelated students and blood donors coming from the different areas of Tunisia. Thirty Gm and fourty-seven Gm-A2m common phenotypes have been observed. Eleven Gm* and seventeen Gm*-A2m* common haplotypes have been deduced from these phenotypes. The Tunisian population appears as mainly Caucasoid (combined frequency of Caucasoid Gm*-Am* haplotypes in the order of 0.81-0.82) with a relatively important Black contribution in the gene pool (combined frequency of Negroid Gm*-Am* haplotypes of 0.17-0.18) and a very low Oriental participation (0.01-0.02). Our results are compared to those previously reported for two other samples of the Tunisian population, the first from the regions of Mahdia and Sfax and the second from several villages of Berbers, the first inhabitants of Tunisia. Likewise, other comparisons are made with populations from Africa, Europe and Asia, since Tunisians are a mixture of Berbers, invaders and immigrants from different origins.


Asunto(s)
Alotipos de Inmunoglobulinas/genética , Alotipos de Inmunoglobulina Gm/genética , Femenino , Frecuencia de los Genes , Genética de Población , Haplotipos , Humanos , Inmunoglobulina A , Alotipos de Inmunoglobulinas/análisis , Alotipos de Inmunoglobulina Gm/análisis , Masculino , Túnez
4.
Transplantation ; 44(5): 643-50, 1987 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-3318034

RESUMEN

Lymphoid cell engraftment was monitored for several years after bone marrow transplantation by Y-chromatin staining of T and B lymphocytes in the peripheral blood and/or by immunoglobulin allotyping in the serum of 20 of 52 pediatric patients grafted successively between October 1973 and October 1983. Data on 2 patients with severe combined immunodeficiency, grafted earlier in December 1968 and April 1971, are also included. These children received an allogeneic bone marrow graft for leukemia (n = 7), severe aplastic anemia (n = 11), or severe combined immunodeficiency (n = 4) and were informative for this study, because they differed from their donor by sex (n = 16) and/or by immunoglobulin phenotype (n = 13). Of 16 pairs in which the donor was of the opposite sex, 11 patients ultimately showed circulating T and B lymphocytes of donor origin after bone marrow transplantation; in the remaining 5, there was an incomplete chimerism of the circulating lymphoid cells. Of 13 pairs with a difference in immunoglobulin phenotype between donor and recipient, 8 patients exhibited donor allotypes 3 months or later after transplantation, in 3 of them together with recipient allotypes. In the remaining 5 patients, recipient allotypes were detected after transplantation, but the simultaneous presence of donor-type immunoglobulin production could not be excluded in 4. The persistence of either a split (T lineage of donor origin and B lineage of recipient origin) or mixed (T and/or B lineage of donor and recipient origin) chimerism was related to the type of disease. In 3 children circulating B cells of donor-origin did not fit with the recipient origin of the sessile immunoglobulin-secreting plasma cells. This implies that different immune compartments--e.g., bone marrow and peripheral lymphoid tissues--should be investigated following allogeneic bone marrow transplantation. A prolonged presence of recipient-type lymphoid cells increased the risk of leukemic relapse in the patients investigated.


Asunto(s)
Linfocitos B/análisis , Trasplante de Médula Ósea , Cromatina Sexual/análisis , Linfocitos T/análisis , Adolescente , Anemia Aplásica/terapia , Niño , Preescolar , Quimera , Femenino , Humanos , Inmunoglobulinas/genética , Síndromes de Inmunodeficiencia/terapia , Lactante , Leucemia/terapia , Masculino , Fenotipo , Trasplante Homólogo
5.
J Immunogenet ; 13(1): 3-9, 1986 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-3745926

RESUMEN

A family with two members with selective IgA2 deficiency was analysed by direct gene analysis with different probes for the IgCH region. No gross gene deletions or rearrangements were detected. Genetic analysis based on serological and molecular markers did not rule out linkage with the IgCH region. However, a defect of other genes not linked to the Ig heavy chain region and controlling the expression of IgA may be possible as well.


Asunto(s)
Disgammaglobulinemia/genética , Deficiencia de IgA , Disgammaglobulinemia/inmunología , Femenino , Genes , Ligamiento Genético , Humanos , Inmunogenética , Inmunoglobulina A/genética , Alotipos de Inmunoglobulinas/genética , Mutación , Linaje
6.
FEBS Lett ; 196(1): 96-102, 1986 Feb 03.
Artículo en Inglés | MEDLINE | ID: mdl-2417889

RESUMEN

The constant region of the gamma 1, gamma 2 and gamma 3 heavy chains of the human IgG1, IgG2 and IgG3 immunoglobulins carries antigenic determinants or G1m, G2m and G3m allotypes, which are genetic markers of these subclasses. The exceptional presence on gamma 1 and gamma 2 chains of Gm allotypes usually located on the CH3 domain of gamma 3 shows an unexpected clustering of base changes and subsequent identity of short DNA sequences in the CH3 exon of the non-allelic gamma 1, gamma 2 and gamma 3 genes. Such clusters of substitutions are not easily explained on the classical basis of point mutations. A gene conversion, which substituted a segment of the gamma 1 or gamma 2 gene with the homologous region of the non-allelic gamma 3 gene, is more likely. Other examples of possible conversion involving the gamma genes are described. The conservation or the restoration of short sequences produced by the conversion events might be related to the biological properties of the constant region of the heavy chains.


Asunto(s)
Conversión Génica , Inmunoglobulina A/genética , Alotipos de Inmunoglobulinas/genética , Regiones Constantes de Inmunoglobulina/genética , Inmunoglobulina G/genética , Inmunoglobulinas/genética , Alelos , Epítopos/genética , Marcadores Genéticos , Humanos , Cadenas Pesadas de Inmunoglobulina/genética
9.
J Immunogenet ; 12(3): 131-7, 1985 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-3937857

RESUMEN

The allotypic markers of immunoglobulin heavy chains (Gm, Am and Em allotypes) provide important contributions to the differentiation between populations, and they are informative for tracing racial origin, migration and admixture of isolates and stray groups. The combined G1m; G2m; G3m; A2m; Em haplotypes are a highly polymorphic system that is a powerful tool in population genetics because of the existence of haplotypes that are unique for a particular race. In this paper, data on Gypsies living in Hungary are compared with those obtained in other populations, in particular Hindus and non-Hindus from India. The analysis agrees with anthropological and philological evidence for population movements from Asia to Europe.


Asunto(s)
Etnicidad , Alotipos de Inmunoglobulinas/análisis , Romaní , Genética de Población , Humanos , Hungría , Cadenas Pesadas de Inmunoglobulina/análisis , India/etnología , Fenotipo , Migrantes , Población Blanca
10.
J Clin Invest ; 75(6): 1935-42, 1985 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-3924957

RESUMEN

To determine whether genetic factors influence the human antibody response to polysaccharides, we correlated Ig allotypes with the concentrations of antibody to 14 bacterial capsular antigens in 130 actively immunized Caucasian adults. The 88 individuals possessing G2m(n), an allotype antigen of IgG2 subclass heavy chains, had significantly higher postimmunization antibody levels to Haemophilus influenzae type b (Hib) and 8 of 11 pneumococcal types (P less than 0.05) than the 42 lacking this antigen. For Hib, pneumococcus type 14, and meningococcus group C, an increased response was observed in IgG class but not in IgM or IgA classes of antibody. The G2m(n) positive individuals also had higher preimmunization antibody levels to most polysaccharide antigens. Total IgG2 concentrations were correlated with the mean postimmunization antibody concentrations to pneumococci (P = 0.005), but this correlation was independent of G2m(n) by multiple regression analysis. To determine if the lack of G2m(n) was associated with increased susceptibility to infection, we compared the frequencies of various Ig allotypes in 98 children infected with Hib and 98 matched controls. Caucasian children with Hib infections other than epiglottitis were significantly more likely to lack the G2m(n) allotype than controls (P less than 0.05). G2m(n) negative Caucasian children less than or equal to 18 mo old have a 5.1-fold higher risk of nonepiglottitic Hib infections than G2m(n) positive children (P less than 0.01). We conclude that allotypic variants of the gamma-2 heavy chain genes, or genes in linkage equilibrium with them, exert a regulatory influence on the caucasian antibody response to a variety of immunologically distinct bacterial polysaccharide antigens. Young Caucasian children of the low responder phenotype, i.e., those lacking the G2m(n) allotype, are genetically predisposed to Hib and perhaps other bacterial infections.


Asunto(s)
Anticuerpos Antibacterianos/biosíntesis , Infecciones por Haemophilus/inmunología , Alotipos de Inmunoglobulinas/inmunología , Cadenas Pesadas de Inmunoglobulina/inmunología , Cadenas gamma de Inmunoglobulina/inmunología , Polisacáridos Bacterianos/inmunología , Adulto , Anticuerpos Antibacterianos/inmunología , Femenino , Haemophilus influenzae/inmunología , Humanos , Lactante , Masculino , Neisseria meningitidis/inmunología , Streptococcus pneumoniae/inmunología , Vacunación
11.
J Neurol Sci ; 65(3): 261-8, 1984 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-6593433

RESUMEN

Linkage studies were undertaken in 120 individuals from 10 kindreds with autosomal dominant facioscapulohumeral muscular dystrophy using 35 different marker genes. No linkage was found. The highest lod score was 1.438 for the immunoglobulin heavy chain gene cluster (IGH) at a recombination fraction of 0.2. IGH is located on the long arm of chromosome 14. Based on scores of other marker genes and on a recombination map of chromosome 14, the probability that the gene for facioscapulohumeral muscular dystrophy is located on chromosome 14 is estimated to be approximately 6%.


Asunto(s)
Aberraciones Cromosómicas/genética , Genes Dominantes , Ligamiento Genético , Distrofias Musculares/genética , Adolescente , Adulto , Trastornos de los Cromosomas , Mapeo Cromosómico , Músculos Faciales , Tamización de Portadores Genéticos , Marcadores Genéticos , Humanos , Recombinación Genética , Hombro
12.
Hum Immunol ; 10(1): 5-21, 1984 May.
Artículo en Inglés | MEDLINE | ID: mdl-6586708

RESUMEN

This report deals with the genetic factors involved in insulin-dependent diabetes mellitus (IDD) in The Netherlands. Twenty-two Dutch multiplex families with IDD were typed for HLA-A, -B, -C, and -DR antigens, for BF, C2, C4, and GLO polymorphisms, as well as for GM allotypes of immunoglobulins. In addition, 53 unrelated IDD children and 31 unrelated patients with adult onset IDD were typed for HLA-A, -B, -C, and -DR antigens. A significant heterogeneity for the frequency of HLA-DR4 related to age of onset was observed. A significant deviation of the Hardy-Weinberg equilibrium was observed for the HLA-DR locus with an excess in patients of heterozygotes HLA-DR3, -DR4.HLA-B8, and HLA-B15 were not only secondary associated, but constituted with HLA-DR3 and -DR4, respectively, a haplotype in association with IDD. Nonrandom segregation of HLA-haplotypes was observed in multiplex families exemplified by an excess of HLA-identical affected sibpairs . Cross- overs between HLA-DR and GLO identified the HLA-DR segment as mainly involved in the association with IDD. Three diabetic haplotypes were confirmed to occur frequently among affected sibs: (a) A1, B8, BFS, C2.1, C4AQO , C4B1 ,DR3, GLO2 ; (b) Aw30, Cw5 ,B18,BFF1,C2.1, C4A3 , C4BQO ,DR3, GLO2 ; (c) A2,Cw3, B15,BFS, C2.1, C4A3 , C4B3 , DR4,GLO1. The segregation of GM allotypes to affected sibpairs was not significantly different from random segregation. The main conclusions from this study are that significant heterogeneity for age of onset exists and that the data are not compatible with simple genetic models including dominant, recessive, and intermediate models of inheritance. The data do require more complex models, involving two different HLA-linked (sets of) susceptibility genes.


Asunto(s)
Diabetes Mellitus Tipo 1/inmunología , Antígenos HLA/genética , Alotipos de Inmunoglobulinas/genética , Inmunoglobulina G/genética , Adolescente , Adulto , Factores de Edad , Niño , Preescolar , Diabetes Mellitus Tipo 1/genética , Femenino , Ligamiento Genético , Genotipo , Antígenos HLA-DR , Antígenos de Histocompatibilidad Clase II/genética , Humanos , Inmunogenética , Lactante , Masculino , Persona de Mediana Edad
13.
J Immunogenet ; 11(2): 107-13, 1984 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-6427354

RESUMEN

The Gm, Am and Km immunoglobulin allotypes and ABO blood groups were studied in three groups of Tunisian Berbers . The results showed that the actual Berbers of Tunisia present certain heterogeneity and their ancestors were probably the first inhabitants of North Africa. Indeed, although their Gm-Am haplotypes are mainly Caucasoid, some of them are typically African. The group of Kesra village, the most Caucasoid, shows frequencies of Gm-Am haplotypes very close to those of South European populations, particularly the Spanish, who are probably of the same origin. The gene frequencies of the ABO groups in the three Berber groups were similar to those recorded in European populations with a relatively high frequency of the O genes typical of the Berbers .


Asunto(s)
Sistema del Grupo Sanguíneo ABO/genética , Alotipos de Inmunoglobulinas/genética , Frecuencia de los Genes , Humanos , Cadenas alfa de Inmunoglobulina/genética , Cadenas gamma de Inmunoglobulina/genética , Cadenas kappa de Inmunoglobulina/genética , Túnez/etnología , Población Blanca
14.
N Z Med J ; 97(752): 178-9, 1984 Mar 28.
Artículo en Inglés | MEDLINE | ID: mdl-6422362

RESUMEN

In the course of studies on the genetic basis of autoimmune disease, immunoglobulin allotypes were measured in New Zealand people of caucasian origin. We report the observed frequencies of the various allotypes of the gamma heavy chains, together with the frequencies of the combinations observed to occur in individuals (phenotypes) and the nature and frequency of the combinations on individual chromosomes (haplotypes), as calculated by application of Kurczynski and Steinberg's computer programme MAXIM.


Asunto(s)
Alotipos de Inmunoglobulinas/genética , Cadenas Pesadas de Inmunoglobulina/genética , Cadenas gamma de Inmunoglobulina/genética , Femenino , Frecuencia de los Genes , Humanos , Inmunoglobulina G/genética , Masculino , Nueva Zelanda , Fenotipo , Población Blanca
15.
Lancet ; 1(8374): 420-4, 1984 Feb 25.
Artículo en Inglés | MEDLINE | ID: mdl-6142151

RESUMEN

Studies of the segregation of heterozygous immunoglobulin allotypes in families with several cases of insulin-dependent diabetes mellitus (IDDM) show that germline heavy-chain V (variable region) genes are not major genetic determinants for IDDM, but data for IDDM and Graves' disease together suggest involvement of kappa light-chain V genes. Absence of IDDM at birth, the semi-random age of onset, and the 50% discordance of identical twins suggest that somatic mutation of germline V genes is involved in the development of the pathogenetic anti-beta-cell clones. The effect of histocompatibility and other alloantigens on the prevalence of IDDM is readily accounted for by the effect of the "holes" they induce, by natural tolerance, in the immune response repertoire; these alterations apparently affect the chance of emergence of anti-beta-cell clones by the somatic mutations and network of interclonal deletions that constantly change the fringes of the repertoire. Histocompatibility antigens can also influence repertoire development by changing the specificity of conjoint presentation of foreign antigens by macrophages. Antigenic stimulation by particular environmental microorganisms is probably essential to the repertoire development necessary for the occurrence of IDDM. Additionally, beta-cell damage by local infection may play a part by facilitating autoantigen presentation to the immune system.


Asunto(s)
Diabetes Mellitus Tipo 1/genética , Ambiente , Antígenos Virales/inmunología , Autoanticuerpos/inmunología , Células Clonales/inmunología , Diabetes Mellitus Tipo 1/inmunología , Femenino , Genes MHC Clase II , Ligamiento Genético , Humanos , Tolerancia Inmunológica , Cadenas Pesadas de Inmunoglobulina/genética , Cadenas Pesadas de Inmunoglobulina/inmunología , Cadenas Ligeras de Inmunoglobulina/genética , Cadenas Ligeras de Inmunoglobulina/inmunología , Islotes Pancreáticos/inmunología , Masculino , Modelos Biológicos , Modelos Genéticos , Mutación , Embarazo , Gemelos Monocigóticos
16.
Vox Sang ; 46(4): 195-206, 1984.
Artículo en Inglés | MEDLINE | ID: mdl-6201004

RESUMEN

A monoclonal anti-IgE antibody was obtained that reacted with some IgE myeloma proteins and with all but a few normal sera. Family studies proved that a genetic marker of IgE had been detected. This allotype, called Em(1), segregates in association with certain Gm-Am haplotypes. The available quantitative evidence warrants the conclusion that human IgE has genetic variants, but no subclasses. Samples from various populations of five continents, representative for the respective prevalent Gm-Am haplotypes, were tested for Em(1). Em(1) was absent mainly in haplotypes carrying A2m(2) and G2m(n). These closely linked genes are located in a chromosomal region that comprises the gamma 2-gamma 4-epsilon-alpha 2 CH genes. A hypothesis for the generation of Em(1) is given.


Asunto(s)
Alotipos de Inmunoglobulinas/genética , Inmunoglobulina E/genética , Cadenas Pesadas de Inmunoglobulina/genética , África , Américas , Animales , Asia , Australia , Niño , Europa (Continente) , Femenino , Ligamiento Genético , Genética de Población , Gorilla gorilla , Haploidia , Humanos , Inmunoglobulina A/genética , Inmunoglobulina G/genética , Masculino , Pan troglodytes , Pongo pygmaeus
17.
Ric Clin Lab ; 14(1): 21-8, 1984.
Artículo en Inglés | MEDLINE | ID: mdl-6427878

RESUMEN

An IgG1K monoclonal component with abnormal covalent H and L chains structure (LIA protein) was identified during a systematic screening of myeloma proteins by means of non-reducing/reducing SDS-polyacrylamide gel electrophoresis. Using immunochemical and immunogenetic analysis the mutation was characterized as a hinge region deletion, with loss of L-H and H-H disulphide bridges and direct L-L bonds. Moreover, non-expression of the G1m(z) allotype suggested that the deletion might start at residue 216, a preferential site previously observed in other HCD proteins. This feature is in agreement with the discontinuous structure of immunoglobulin CH genes and suggests that an abnormal switch mechanism is responsible for the deletion.


Asunto(s)
Anticuerpos Monoclonales/análisis , Enfermedad de las Cadenas Pesadas/sangre , Inmunoglobulina G/análisis , Proteínas de Mieloma/análisis , Anciano , Electroforesis en Acetato de Celulosa , Electroforesis en Gel de Poliacrilamida , Femenino , Humanos , Cadenas Pesadas de Inmunoglobulina/análisis , Modelos Moleculares , Peso Molecular
18.
Vox Sang ; 47(5): 366-72, 1984.
Artículo en Inglés | MEDLINE | ID: mdl-6506592

RESUMEN

The properties of a group of mouse monoclonal antibodies (McAbs) specific for the human G1m(f) allotype marker on immunoglobulin G are described. The specificity of all 5 McAbs was anti-Gm(f) in haemagglutination assays detecting the G1m(f) determinant on 6 ng of purified G1m(f) paraproteins. A high dilution (greater than or equal to 1/10(4)) could be used for the majority of McAbs in this assay. In Elisa the G1m(f) marker could be detected in homozygote G1m(f+z-) sera at a serum dilution of greater than or equal to 1/10(4). In Elisa assays the G1m(f) specificity was lost when IgG was bound directly to polystyrene but was restored when IgG was bound via anti-human IgG to the polystyrene plate. A possible conformational change in IgG to account for this loss of specificity is discussed. It is expected that these McAbs with their high titre and increased sensitivity over conventional Gm antisera will allow more detailed analysis of the Gm marker system.


Asunto(s)
Anticuerpos Monoclonales/inmunología , Alotipos de Inmunoglobulinas/inmunología , Animales , Especificidad de Anticuerpos , Ensayo de Inmunoadsorción Enzimática , Pruebas de Inhibición de Hemaglutinación , Humanos , Inmunoglobulina G/inmunología , Ratones , Ratones Endogámicos BALB C/inmunología , Paraproteínas/inmunología
19.
Hum Genet ; 68(2): 165-8, 1984.
Artículo en Inglés | MEDLINE | ID: mdl-6437964

RESUMEN

A genetic linkage study was performed in a large Dutch kindred with erythrokeratodermia variabilis (EKV, McKusick no. 13320). The autosomal-dominant trait appeared to segregate rather consistently with the cde (r) gene complex of the Rh system. Only one recombinant was found amongst 27 informative individuals. Lod score calculations gave strong evidence for close linkage between the loci for EKV and Rh (with a maximum lod score of 5.55 at a recombination fraction of 0.044).


Asunto(s)
Ictiosis/genética , Sistema del Grupo Sanguíneo Rh-Hr/genética , Cromosomas Humanos 1-3 , Femenino , Genes Dominantes , Ligamiento Genético , Humanos , Masculino
20.
J Clin Invest ; 72(6): 1918-23, 1983 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-6605978

RESUMEN

A case of familial selective IgA2 deficiency is described. The mother had no detectable IgA2, but a low level of IgA1. She had anti-alpha 2 antibodies of the IgG class. One of her daughters also lacked IgA2 with a normal level of IgA1. The analysis of the immunoglobulin haplotypes of the family suggested the deletion of the alpha 2-gene. In addition, the analysis of B lymphocytes of mother and daughter showed the absence of IgA2-bearing cells. Upon stimulation with pokeweed mitogen, the B cells differentiated into IgA1-containing plasma cells, but IgA2-containing cells were not found. The results suggest a defect in the generation of intraclonal B cell isotype diversity. The molecular basis of this phenomenon is unknown.


Asunto(s)
Disgammaglobulinemia/inmunología , Deficiencia de IgA , Alotipos de Inmunoglobulinas/inmunología , Adolescente , Adulto , Anticuerpos Antiidiotipos/análisis , Linfocitos B/inmunología , Niño , Cromatografía de Afinidad , Disgammaglobulinemia/genética , Femenino , Humanos , Alotipos de Inmunoglobulinas/genética , Inmunoglobulina G/inmunología , Linaje
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