摘要:

The infrequent band of 3.2‐kb of the apolipoprotein A‐I/C‐III polymorphic region has previously been found to be associated with coronary artery disease and with hypertriglyceridaemia in Caucasians. We studied the apolipoprotein A‐I/C‐III gene cluster polymorphism in 97 Saudi Arabians in relation to coronary artery disease. Patients were categorized as being with or without coronary artery disease on the basis of coronary angiography. Genomic blotting of Sac I‐digested chromosomal DNA with the use of an apolipoprotein A‐I gene probe revealed 4.2‐kb and 3.2‐kb hybridization bands. The genotype frequency of patients with and without coronary artery disease was not different. The frequency of the 3.2‐kb allele occurred in 16% of patients with coronary artery disease and in 21% of patients with normal coronary arteries (non‐significant). In conclusion, we have not been able to confirm in Saudi Arabians associations previously reported in Caucasians of the 3.2‐kb band and

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb02978.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

A new transthyretin variant which lost an Sph I cleavage site within exon 3 has been characterized. A 260 bp sequence containing exon 3 was amplified using the polymerase chain reaction, and the variant was found to possess a Bsm I cleavage site not present in normal transthyretin. This led to the conclusion that the histidine at position 90 was replaced by asparagine, and amino acid analysis supported the conclusion. The discovery of this mutation suggests that intermolecular binding between hydrophobic polypeptide loops on the surface of transthyretin can lead to familial amyloidotic polyneuropathy.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb02979.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

1‐O‐Alkyl and 1‐O‐alk‐1‐enyl (plasmalogens) glyceryl ether lipid levels were measured in postmortem brain and/or liver biopsies from 7 patients with ultrastructural and biochemical evidence of a defect in peroxisomal biogenesis and/or enzymological evidence of a disturbance in ether lipid synthesis. Near normal levels of both species of glyceryl ether lipids were found in neonatal adrenoleukodystrophy and infantile Refsum's disease but marked deficiencies were found in Zellweger's syndrome and rhizomelic chondrodysplasia punctata, the latter manifesting the most profound reduction in ether lipid levels. These observations suggest that little ether lipid biosynthesis occursin vivoin rhizomelic chondrodysplasia punctata or Zellweger's syndrome. However, in some phenotypes with apparently gross reductions in peroxisomal numbers, e.g. neonatal adrenoleukodystrophy and infantile Refsom's disease, there is significant ether lipid synthesis in live

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb02980.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

Structural variation at the APOE locus is a major determinant of interindividual differences in cholesterol levels in populations at large. We have determined APOE structural polymorphism and estimated its impact on total cholesterol in the Mayans of the Yucatan Peninsula from Mexico. A unique pattern of APOE allele frequency distribution was observed, with no example of theAPOE*2 allele and a relatively low incidence (9%) of theAPOE*4 allele, giving rise to the lowest average heterozygosity at the APOE locus observed to date. The reported elevating affect of theAPOE*4 allele on cholesterol has been found to be absent in the Mayans; several possible explanations which may account for the absence of this affect are discussed. In addition to APOE the gene products of five other apolipoprotein loci were screened and low frequency variation, possibly due to European admixture, was observed in two systems (APOH and APOA‐IV

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb02981.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

Southern hybridisation demonstrates deleted mitochondrial DNAs (mtDNAs) in muscle but not in blood in a subgroup of patients with mitochondrial myopathy. The polymerase chain reaction (PCR) was used to search for low levels of rearranged mitochondrial DNAs in blood in 24 patients with mitochondrial myopathy, and 15 asymptomatic relatives, all of whom have no detectable abnormality on restriction enzyme analysis of blood mitochondrial DNA. In eight patients and two of their relatives, PCR products were obtained consistent with deletions of mitochondrial DNA. The presence or absence of a deletion was correctly predicted in 10 out of 11 patients from whom information was available from muscle DNA. No false positives were obtained in 43 controls. PCR analysis of blood may be applicable as a non‐invasive screening test of affected individuals and in carrier detectio

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb02982.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

Age, sex and chromosome effects on weight, height, sitting height, three head dimensions, and five hand and three foot measurements were analyzed from 57 patients (35 males and 22 females) with the Prader‐Willi syndrome (PWS). No significant differences were observed in anthropometric data between PWS patients with the 15q chromosome deletion and those with normal chromosomes. Preschool children were found to have dolichocephaly, while hand and foot measurements, stature and sitting height were within normal range, although foot size was smaller than hand size in females when compared with PWS males. However, anthropometric measurements, excluding weight, head length and ankle breadth, were less than—2 SD in adult patients. Abnormal growth patterns apparently exist with significant negative correlations with age, particularly in PWS males, for height, sitting height, head circumference, and hand and foot measurements, but a significant positive correlation for weight was found in patients below 10 years of

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb02983.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

HLA class I (A, B, C), class II (DR, DQ) histoglobulins and HLA class III (C4A, C4B and Bf) complement factors were analysed in 87 patients with vitiligo and in controls. Two HLA supratypes seem to mark different age of onset of vitiligo: HLA‐BfS, C4A3, C4B1, DR5 (W11), DQW3 is characteristic of the pediatric form; while HLA‐BfS, C4A3, C4B1, DR7, DQW2 marks the adult form of disease. The importance of defining HLA supratype, not single alleles, is discus

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb02984.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

We report a male infant with ade novoinverted duplication of bands 8p 21.1 → 22.1. The clinical features up to 8 months of age and the enzyme investigations are described. A new cytogenetic hypothesis on the genesis of this rare chromosome aberration is also discusse

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb02985.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

An infant with non‐mosaic 9p tetrasomy is described. The tetrasomy apparently results from a translocation involving the 9qh region. All the cells analyzed from multiple banding techniques from lymphocyte culture as well as skin fibroblast culture were 9p tetrasomic. The infant, who had the characteristic dysmorphic features of 9p tetrasomy, survived for 2 months. Prominent features included: low birth weight, severe retardation, brachycephaly with large anterior fontanelle, hypertelorism with short bilateral palpebral fissures, beaked nose, bilateral cleft lip and palate, and low‐set, malformed ears. Skeletal anomalies, ambiguous genitalia and heart defect were also observed. These features are highly characteristic of the 9p tetrasomy syndrome based on six pure tetrasomy and four cases of tetrasomy that included part of the 9qh reg

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb02986.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY

摘要:

Neuroleptic malignant syndrome (NMS) is an uncommon but serious adverse reaction to neuroleptic drugs. Clinically, it resembles malignant hyperthermia, a pharmacogenetic disorder of anesthesiology. Inv dup(15) is a rare but underrecognized cause of mental retardation among institutionalized patients. NMS and inv dup(15) have not been previously reported together. Their association should encourage clinicians to search for genetic markers for NMS.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1991.tb02987.x

出版商:Blackwell Publishing Ltd    

年代:1991

数据来源: WILEY