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Biomedical subjects

M Hilling

Publications and source records attributed to M Hilling.

15 recordsLinked to original sources

Transferrin subtypes in six Indian population samples.

Transferrin subtypings have been performed on three population samples originating from Himachal Pradesh, North India (Pangwala, Gaddi-Bharmour valley, Gaddi-Kangra district) and on three samples from Andhra Pradesh, South India (Koya, Konda Kammara, Lambadi). Among these six populations, marked differences in the distribution of Tf phenotype and allele frequencies are present. All Indian samples differ clearly from the hitherto reported TfC1 and TfC2 allele frequencies. In one of our Indian samples, the Pangwala, the most likely existence of a new Tf subtype variant (Tf Pangwala) could be demonstrated.

Alleles↗

Investigation on the distribution of genetic polymorphisms in Greece. 3. Red cell enzyme polymorphisms and genetic distances G.

112 Greeks living in W. Germany and coming from various parts of Greece and 280 individuals from the Isle of Alonissos (northern Aegean Sea) have been typed for seven polymorphic red cell enzymes, namely red cell acid phosphatase (aP), phosphoglucomutase (PGM1) adenylate kinase (AK), 6-phosphogluconate dehydrogenase (6-PGD), esterase D (EsD), glutamic-pyruvic transaminase (GPT), and glyoxylase I (GLO). The gene frequencies obtained in these two samples are compared with the hitherto reported corresponding data from other Greek populations. Finally genetic distances (basing on six polymorphic serum protein and red cell enzyme systems) have been computed for seven Greek population samples. The results of these distance measurements are discussed.

Acid Phosphatase↗

Investigations on the distribution of genetic polymorphisms in Greece. 2. Serum protein polymorphisms.

113 Greeks living in W. Germany and coming from various parts of Greece and 281 individuals from the Isle of Alonissos (northern Aegean Sea) have been typed for six serum protein polymorphisms, namely haptoglobin, group specific component (Gc), C 3, transferrin subtypes, Gm (1, 2, 3, 5, 13), and Inv (1). The gene frequencies obtained in these two samples are compared with the up to now reported data from other Greek populations. They show a marked genetic heterogeneity with respect to these polymorphisms.

Blood Proteins↗

Geographic and ethnic distribution of genetic markers in India. 2. Inv, Gm, Gc, ADA, AK, ap, PGM1, 6-PGD and EsD polymorphisms.

In the literature widely scattered Indian data on the gene frequencies of Inv, Gm, Gc, ADA, AK, ap, PGM1, 6-PGD and EsD polymorphisms have been compiled. The geographic and ethnic impacts of these data are discussed.--Additionally the results of blood group (A1A2BO, MN), serum protein group (Hp, Gc, Tf, Gm, Inv) and enzyme group (AK, aP, PGM1, 6-PGD, EsD) typings on a sample of 101 Jains, a population group in the area around Delhi, are presented here.

ABO Blood-Group System↗

Slow-moving serum albumin variant in a South Indian tribal population.

In 4 unrelated individuals from the Lambadi tribal population (Khamman district, Andhra Pradesh, South India) slow-moving serum albumin variants were found which differ from all the hitherto reported albumin variants. We therefore designate this new variants 'Albumin Lambadi', In 2 other South Indian tribals (Koyas, West Godavari district, and Konda Kammaras, East Godavari district) no albumin variants were seen. This is the first report on the occurrence of serum albumin variants in any Indian tribal population.

Adult↗

Genetic markers and leprosy in South African negroes: Part II. Erythrocyte enzyme polymorphisms.

The phenotype frequencies of the erythrocyte enzyme polymorphisms acid phosphatase (aP), phosphoglucomutase loci 1 and 2 (PGM1 and PGM2), adenylate kinase (AK), adenosine desaminase (ADA), esterase D (EsD) and 6-phosphogluconate dehydrogenase (6-PGD) were determined on a sample of 234-248 South African Negroes with leprosy. These results were compared with data of 841--997 healthy Negro controls of similar geographical and ethnic origin, in order to determine whether or not any association exists between specific phenotypes and the manifestation of leprosy. A part of the data included in the present study were compared with the data of a similar comparative analysis on Mozambican Negroes. With regard to the polymorphisms aP, PGM1 and PGM2, the results derived from South Africa and Mozambique exhibit reverse patterns of deviations from the null hypothesis. From this it does not appear justified to postulate an association between these genetic markers and the occurrence of leprosy. For the enzyme polymorphisms ADA, AK and EsD (data are confined to South African Negroes only) the distribution of phenotypes between patients and controls was very similar. The differences were not statistically significant. However, observations on the 6-PGD polymorphism (data are confined to South African Negroes only) showed an excess of phenotype PGD A among leprosy patients as compared with controls. The difference was statistically highly significant. Further studies based on additional samples are required to substantiate whether or not the statistical outcome reflects a true association between this phenotype and leprosy.

Acid Phosphatase↗

Associations between atopic diseases and the polymorphic systems ABO, Kidd, Inv and red cell acid phosphatase.

In 239 German patients with atopic conditions (atopic dermatitis, hay fever, allergic rhinitis, bronchial asthma, and acute urticaria) the phenotype and gene distribution of 15 genetic blood polymorphisms (ABO, MNSs, rhesus, P, Kell, Duffy, Kidd, Hp, Gc, Gm, Inv, aP, PGM1, EsD, and 6-PGD) were analyzed and compared with those in 151 selected controls (individuals clinically free of allergic conditions and without allergy in the family history). The incidence of blood group antigens A and B was somewhat higher in patients than in controls. These observations are in accordance with the results of previous studies in other populations. In addition, our observations favor the hypothesis that there are also associations between the phenotypes Jk (a-b+), Inv(1) and red cell acid phosphatase aP A and aP AP on the one hand and atopic disposition on the other. The possible reasons for these associations are discussed.

ABO Blood-Group System↗

On the incidence of blood group O and Gm(-1) phenotypes in patients with malignant melanoma.

Fifteen polymorphic systems of the blood (ABO, MNSs, Rhesus, P, Kell, Duffy, Kidd, Hp, Gc, Gm, Inv, aP, PGM1, EsD, and 6-PGD) were examined in 191 unrelated male and female patients suffering from malignant melanoma. These polymorphic systems were compared with the corresponding phenotype and gene frequencies of controls from the same geographical area (Rhineland-Palatinate). The only associations discovered were the ABO and Gm polymorphisms: The incidence of O and Gm(-1) phenotypes in patients is obviously higher than in controls. These observations agree with the findings in other population samples from Germany and Bulgaria.

ABO Blood-Group System↗

On the population genetics of beta2-glycoprotein I.

Beta2-glycoprotein I typings on 152 healthy Germans and 150 patients with atopic diseases did not show any differences in the serum protein concentrations or in the phenotype and gene frequencies. Compared to these German samples, Philippinos (n = 88) as well as healthy Negroes from South Africa (n = 192) revealed statistically significant lower concentrations of this serum protein. They differ also from the Germans with regard to phenotype and gene frequencies. A most striking result was found in the comparison of healthy and leprous Negroes (n = 250) from South Africa. In these, quite different and statistically significant beta 2-Glycoprotein I concentrations, respectively, phenotype and gene frequencies were seen, which may be due to this disease. The possible reasons for these observations as well as for the observed population differences are discussed.

Adult↗

Genetic markers and leprosy in South African negroes. Part I. Serum protein polymorphisms.

The phenotype frequencies of the serum protein polymorphisms Hp, Gc, Tf, Gm and Inv were determined on a sample of 250 South African Negroes with leprosy. These results were compared with data derived from 918-977 (depending on the polymorphism tested) healthy Negro controls of similar geographical and ethnic origin, in order to determine whether or not any association existed between specific phenotypes and the occurrence of leprosy. The data derived from the present study were also compared with those of similar comparative analyses on African and non-African populations. Because of the contradictory results between samples with regard to the polymorphisms Hp, Gc and Inv, an association of any of these phenotypes with leprosy appears to be highly improbable. With regard to the polymorphisms Tf and Gm, however, such associations cannot be ruled out. The questions arising from the results are discussed.

Alleles↗

Psoriasis vulgaris and genetic markers.

In a sample of n = 160 nonrelated male and female patients suffering from psoriasis Vulgaris, blood serum protein, and enzyme group typings have been carried out and compared with healthy controls from the same area (Rheinland-Pfalz). Marked statistically significant differences between patients and controls were found in none of the genetic blood polymorphisms considered here. However, combining previously published data from various authors with our own, significant associations between this skin disease and genetic polymorphisms such as MN, Gc, Gm (2), red cell acid phosphatase, and red cell phosphoglucomutase (PGM1) were seen. The possible reasons for these associations are discussed.

Acid Phosphatase↗

Esterase D phenotypes in psoriasis vulgaris, atopic diseases and healthy controls.

Esterase D phenotypes have been determined in 162 patients with psoriasis vulgaris, 181 patients with atopic diseases and 110 healthy controls. All these samples are from the area of Rheinland-Pfalz (West Germany). The two patient samples show somewhat higher frequencies of Es D 1 and lower of Es D 2-1 phenotypes as compared to controls. These differences are, however, statistically not significant. The Es D1 frequency in controls (0.9045) is in accordance with those reported from other European populations.

Asthma↗