摘要:

The deoxyribonuclease I (DNase I) system was studied in 120 unrelated Japanese patients with liver disease, malignant neoplasms, alimentary-canal disease and inflammatory conditions with respect to the distribution of phenotypes and gene frequencies in serum samples. In patients with alimentary-canal disease a significant deficit of the DNase I phenotype 1-2 was demonstrated, which suggests that heterozygosity may confer protection against such disease. Furthermore, a significant association between the DNase I phenotype 2 and liver disease was found. The possible involvement of these phenotypes in the response to these diseases would appear to merit further study.

ISSN:0001-5652    

DOI:10.1159/000154132

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

Alleles of the dopamine D2 receptor gene are distinguished by polymorphic A and B Taql sites approximately 10 kb 3’ to the final exon and bordering the second exon, respectively. These alleles have been reported to be more prevalent in heavy substance users than in control populations in several, although not all studies. Meta-analyses of combined data from available work support significant association. Two competing hypotheses could explain this association: (1) the A1 and B1 RFLPs are in linkage disequilibrium with a functional allelic determinant that in some way influences behavior; (2) the affected subjects are drawn disproportionately from populations stratified on the basis of, for example, ethnicity that happen to have higher A1 and B1 RFLP frequencies. We report here data collected from 616 substance-abusing and control individuals that document substantial differences in A1 RFLP frequencies between white and black Americans, the almost exclusive presence of the A3 RFLP in blacks, and low frequencies of rare A4 and B3 RFLPs. In blacks, neither the Al nor B1 RFLPs display association with substance use, while white individuals display significant association with polysubstance use. When expressed as a percent of the maximum possible disequilibrium, both white and black individuals display strong linkage disequilibrium between these loci, although blacks display many more A1/B2 chromosomes. These racial differences in TaqlRFLP haplotypes underscore the need for caution in interpreting allelic associations when careful matching for ethnicity has not been performe

ISSN:0001-5652    

DOI:10.1159/000154133

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

A random sample of 1,491 indidivuals from three Basque provinces was studied for the red-cell esterase D (ESD) polymorphism by means of isoelectric focusing. The following allele frequencies were observed: Vizcaya, ESD*1 = 0.933, ESD*2 = 0.058, ESD*5 = 0.009; Guipuzcoa, ESD*1 = 0.938, ESD*2 = 0.053, ESD*5 = 0.009; and Alava, ESD*1 = 0.894, ESD*2 = 0.088, ESD*5 = 0.018. The Basques from Vizcaya and Guipuzcoa display the lowest values for allele ESD*5 of any European population studied to date. The value obtained for this allele in the Basque population of Alava is significantly higher than those found in the other two Basque samples. This, together with the fact that Basques from Alava display the lowest ESD*1 frequency of any Basque series, suggests that there are genetic differences between Basque provinces.

ISSN:0001-5652    

DOI:10.1159/000154134

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

We report here a database listing Mendelian phenotypes described in the Netherlands and/or in populations originating from this country, and describe the results of a quantitative analysis of the database. The database is specifically directed at the presence, frequency and origin of the phenotypes. These are arranged according to their mode of inheritance: autosomal dominant (AD), autosomal recessive (AR) and X-linked. Only those phenotypes which have been reported in accessible sources were included. We entered 1,482 references up to January 1,1991. At least 672 different loci were decribed in the Netherlands at this date: 321 (47.8%) AD, 283 (42.1%) AR and 68 (10.1%) X-linked. Almost 2.5% of all loci in our database have no comparable entry in McKusick [Mendelian Inheritance in Man, ed 9. Baltimore, The Johns Hopkins University Press, 1990] (MIM). There is a significant difference (p < 0.01) according to the division into AD, AR, and X-linked phenotypes between our database and MIM, in which 61.7% of the phenotypes are AD, 31.5% AR and 6.8% X-linked. Dutch prevalence data for 38 monogenic disorders and 24 polymorphic systems are listed.

ISSN:0001-5652    

DOI:10.1159/000154135

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

A sample of 121 Piaroa Indians from the Federal Amazonia Territory (Venezuela) was studied for the following serum protein polymorphisms: haptoglobin (HP), group-specific component subtypes (GC), orosomucoid (ORM), third component of complement (C3), transferrin C subtypes (TF) and α1-antitrypsin subtypes (PI). The gene frequencies in the whole sample were: HP1 = 0.821; GC1S = 0.698; GC1F = 0.058; GC2 = 0.244; ORMS = 0.434; C3S = 0.699; C3F = 0.289; C3var = 0.012; TFC1 = 0.955; PIM1 = 0.467; PIM2 = 0.004; PIM3 = 0.529. The studied Piaroa sample came from three different communities: Gavi-lan, Paria and Alto Carinagua. The distribution of GC, C3 and HP polymorphisms was heterogenous within the three groups. All the examined serum protein markers were polymorphic, in contrast to some enzymatic markers (ADA, DIA, 6PGD, AK) previously studied, which were shown to be monomorphic in the Piaroa. The results were compared with data from other populations living in the same territory

ISSN:0001-5652    

DOI:10.1159/000154136

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

Four DNA probes (L754, p99-6, pERT87-l and pERT87-15) from the short arm of the human X chromosome were studied in two European (English and Spanish) and two Asiatic Indian (Maratha and Parsi) populations. All four RFLPs showed conclusive heterogeneity among the four populations. Nei’s genetic distance (d) matrix shows an affinity between the Parsis and the population from southern Europe. There is an interesting suggestion of a west to east cline for allele *2 detected by probe L754. Genetic heterogeneity found for the X-linked RFLPs prove that these markers are a useful tool for population genetics studie

ISSN:0001-5652    

DOI:10.1159/000154137

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

Thirty-one unrelated phenylketonuria patients from the Moscow region were screened for mutations in the phenylalanine hydroxylase gene at the following codons: 408, 158, 261 and IVS-12. For detection of point mutations, polymerase chain reaction amplification was applied with allele-specific oligonucleotide hybridization. The following mutation frequencies were determined: codon 408 – 56.4%; codon 158 – 8.1%; codon 261 – 3.2%, and IVS-12

ISSN:0001-5652    

DOI:10.1159/000154138

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

In Greenland, and especially East Greenland (Tasiilaq), a common recessive disease, cholestasis familiaris groenlandica (CFG)/Byler-like disease, occurs in Eskimo children [1]. In a period from 1964–1991, at least 22 children out of about 2,121 newborns were born with this disease (gene frequency q = 0.102). Samples from 126 persons, from a large pedigree in East Greenland including 7 affected and from two families in West Greenland with a total of 3 affected children, have been collected for studying 45 polymorphic markers and for mapping the CFG disease. Polymorphisms and exclusion data were found for the following markers: A1BG, ABO, ACP1, AHSG, C1R, C6, FY, GC, GLO1, GPT, HP, ITIH1, JK, GYPA, GYPB, ORM, P1, PGM1, PI, PON, RH and TCN2. Small positive lod scores (Z < 1.5) were found to the following markers: ITIH1, JK and TCN2. The following markers were nonpolymorphic in this material: ADA, AK1, ALAD, APOA4, APOH, BF, C3, BCHE, CHE2, CO, ESD, FUCA2, F13A1, F13B, KEL, LE, FUT1, LU, PEPD, PGD, PGP, PLG, FUT2, SOD1 and T

ISSN:0001-5652    

DOI:10.1159/000154139

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

A new technical modality for the typing of coagulation factor XIIIB (F13B) is described. The determination of F13B phenotypes was carried out from desyalized plasma samples by means of polyacrylamide gel isoelectric focusing (pH range 6–8) followed by immunofixation-silver stain. This method combines high sensitivity, low expenditure, and a single methodology. A genetic analysis on F13B phenotypes in the Galician population is also discusse

ISSN:0001-5652    

DOI:10.1159/000154140

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

The human renin gene (REN) has been assigned to chromosome 1q42. Linkage studies are, however, inconsistent with this localization. We therefore reexamined the question of the location of REN using a patient whose distal chromosome 1q arm was translocated to chromosome 4 [(1;4)(q42;p16)]. In situ hybridization using a 3H-labelled REN probe demonstrated hybridization signals confined to the q32 band of chromosome 1, with radioactivity in the translocated 1q42 region being similar to the low levels along all other chromosomes.

ISSN:0001-5652    

DOI:10.1159/000154142

出版商:S. Karger AG    

年代:1993

数据来源: Karger