摘要:

To evaluate the developmental pattern of ABO isohemagglutinins in Taiwanese, 644 blood samples (349 males, 295 females), including cord blood, were collected from individuals with ages ranging from newborn to 83 years. Synthesis of anti-A and anti-B could be demonstrated in most Taiwanese infants by 2-4 months of age, increasing progressively to reach adult levels (titers of 1:32-1:256) at around 1 year of age. Peak levels were reached at between 3-10 years of age and then declined with advancing years, with individuals of 80 years of age and over showing reduced levels similar to those seen in 6-to 12-month-old infants. Sex and parity did not appear to influence ABO isohemagglutinin development.

ISSN:0001-5652    

DOI:10.1159/000154350

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

Single-strand conformational analysis was used to screen for genetic defects in all thirteen exons of the phenylalanine hydroxylase gene (PAH) in phenylketonuria and hyperphenyl-alaninemia patients in the Netherlands. Exons that showed a bandshift were sequenced directly. In this way, we were able to identify 93% of the PAH mutations in a panel of 34 patients. Twenty-one different mutations were found: 4 of these gene aberrations are novel.

ISSN:0001-5652    

DOI:10.1159/000154351

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

We report the results of a linkage study of eight markers on chromosome 19 in a sample of 24 families multiply affected with schizophrenia and related psychoses. This study forms part of a systematic search of the entire genome using microsatellite markers spaced at 10–20 cM intervals. These data provide no evidence for the presence of a gene of major effect on chromosome 19 under the assumption of genetic homogeneity or heterogeneity. We have attempted to describe the extent to which this region has been excluded and demonstrate that while it is possible to exclude near-dominant and recessive models under the assumption that all families are linked to the same locus, power for exclusion falls away rapidly when incomplete penetrance and heterogeneity are invoke

ISSN:0001-5652    

DOI:10.1159/000154352

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

Sequence analysis of the glucose-6-phosphate dehydrogenase (G6PD) variant Gc, characterized by slower electrophoretic mobility than G6PD-B, in 14 Canarian and 2 Berber males, has revealed that all of them share the G → C mutation at nucleotide 844 in exon 8 leading to an Asp → His substitution at amino acid 282 known as G6PD Seattle. No additional differences have been detected among them nor with the common haplotype previously found for this vari

ISSN:0001-5652    

DOI:10.1159/000154353

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

Using a non-radioactive PCR-SSCP technique, we identified a novel glucose-6-phosphate dehydrogenase (G6PD) mutation in a Chinese newborn with neonatal jaundice. This new variant (G6PD NanKang) causes a T to C change at nucleotide position 517, producing a Phe173Leu substitution in the human G6PD protein. Since the 517 mutation does not create or remove any known restriction site, we introduced an artificially created site by adding a primer containing a mismatched base to the PCR reaction mixture. The mismatched base accompanying the nearby 517 T→C mutation generates an XhoI site which is suitable for distinguishing normal from mutant alleles. Using this approach, the 517 mutation can be diagnosed quickly at the DNA leve

ISSN:0001-5652    

DOI:10.1159/000154354

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

We have typed ABO, Rh and Kell blood group systems in 1,267 voluntary blood donors native to the three districts into which Terni province is subdivided. By using the method of principal components, the Terni population was compared with those of other provinces of central Italy to disclose that (1) the Terni sample clustered with the Tyrrhenian rather than the Adriatic populations, and (2) there seems to be a positive relation with both the distribution of the languages spoken during the prehistoric period and the location of pre-Roman civilizations.

ISSN:0001-5652    

DOI:10.1159/000154355

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

Best’s vitelliform macular dystrophy (VMD2) is an autosomal dominant retinal dystrophy for which the underlying biochemical cause is unknown. We used 11 genetic markers in the vicinity of the VMD2 gene in our study of a large North American family in which macular dystrophy characteristics overlap the broad definition of Best’s disease. Significant evidence for linkage was found for markers D11S956 (ẑ= 5.88, θ = 0.04) and FCER1B (ẑ = 4.31, θ = 0.00). Recombination events localized the disease gene to the 5-cM interval D11S956-UGB, a genetic inclusion interval that substantially overlaps the VMD2 inclusion interval defined by recombinants at FCER1B and UGB observed by other research groups. The resulting exclusion of ROM 1 from the genetic inclusion interval eliminates ROM1 defects as a possible cause of the disease in this family. Linkage studies of many families, including those that share most but not all features with classical Best’s disease, will be needed to properly evaluate genetic heterogeneity and the range of phenotypic variation that can result from

ISSN:0001-5652    

DOI:10.1159/000154356

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

In previous investigations p53 polymorphisms and haplotypes have been found to be associated with different types of cancer. In this paper the codon 31 polymorphism of the p53-inducible protein p21 was studied in 144 Swedish lung cancer patients and two different control groups: 95 patients with chronic obstructive pulmonary disease (COPD) and 761 healthy controls. An increased frequency of the p21 codon 31 A1 (arg) allele was found in lung cancer patients, especially in comparison with COPD patients (p = 0.004). There was a significantly increased frequency among lung cancer patients of individuals carrying the arg allele both in comparison with COPD controls (OR = 5.2, 95% CI 1.5–18.1) and healthy controls (OR = 1.7, 95% CI = 1.0–2.9). The results of this and previous studies indicate that allelic variants of both p53 and its effector protein p21 may have an influence on lung can

ISSN:0001-5652    

DOI:10.1159/000154357

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

There seems to be no limit to the complexity of computations that genetic linkage analysts want to do. Two primary factors that increase the length of computations are pedigree loops and unknown genotypes. I describe the implementation in FASTLINK of some algorithmic improvements to partly address the problems of pedigree loops and unknown genotypes. LINKAGE is by far the most popular software package to do lod score computations on disease pedigrees. FASTLINK is derived from LINKAGE 5.1 and compatible with it. In contrast to LINKAGE, FASTLINK has the virtues that it is faster sequentially, runs well in parallel, is more robust against errors, and includes substantial new documentation. One of the new improvements allows the detection of violation of mendelian rules of inheritance in input pedigree files with loops. This error-detection capability was not provided in any previous version of LINKAGE or FASTLINK.

ISSN:0001-5652    

DOI:10.1159/000154358

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

Restriction fragment length polymorphism (RFLP) of the gene encoding the β chain of the human T cell receptor (TcR) was studied in three ethnic groups in Singapore by Southern blotting. Polymorphism in the β chain gene was identified in BglII-digested DNA samples using a 770-bp TcRβ cDNA clone containing the joining and constant region segments. The TcRβ/BglII polymorphism was studied in 136 Chinese, 93 Indian and 88 Malay samples. The frequency of the less frequent allele (TcRβ*2) in all the ethnic groups was significantly lower (0.15–0.29, p < 0.01) than that in the Caucasians (0.46). Indians had a significantly lower frequency of this allele (0.15) than the Chinese (0.29) and Malays

ISSN:0001-5652    

DOI:10.1159/000154359

出版商:S. Karger AG    

年代:1996

数据来源: Karger