摘要:

Four examples of discordance between karyotypes prepared from direct and PHA‐stimulated neonatal blood samples are presented. The specimens were initially studied by direct methods to establish a neonatal karyotype rapidly. The patients are described and the significance of the findings is discusse

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04029.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

A family with familial amyloidotic polyneuropathy (FAP) was previously found to have a substitution of asparagine for histidine at position 90 of transthyretin. Members with his90asn developed FAP. However, close examination of the transthyretin gene revealed that glu42gly is coinheri‐ted with his90asn in this family. Since glu42gly has already been seen in Japanese FAP patients, and his90asn has been found in Portuguese and German individuals without FAP, we conclude that his90asn is a nonpathogenic varian

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04030.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

A functionally inactive plasminogen (PLG) variant, PLG M5, is polymorphic in the Japanese population and has a codon 601 mis‐sense mutation (GCT for Ala to ACT for Thr), designated type‐I mutation. The present study aimed to reveal whether the plasminogen with type‐I mutation is present in the Chinese Han population. Among 104 healthy Chinese students, phenotype PLG AM5 was found in three subjects (2.9%), while 100 subjects were phenotype A and one was phenotype AA3. In the three subjects with PLG AM5, plasma concentrations of immunoreactive PLG were normal but PI G activities were decreased. Analysis using PCR and dot‐blot hybridization with allele‐specific oligonucleotide probes revealed the presence of the type‐I mutation in the PLG gene of all three subjects with PLG AM5. The data indicate that PLG with type‐I mutation is present in the Chinese Han population, possibly at a polymorp

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04031.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

The study was performed in six mohallahs (colonies) of Aligarh City (North India). All six mohallahs are predominantly inhabited by Qureshi (meat sellers, a highly endogamous group) Muslims. A total of 1721 infants and children up to the age of 6 years were examined to determine the incidence of congenital heart diseases (CHD) in relation to the degree of consanguinity of the parents. Around 43% of the subjects were the offspring of consanguineous marriages including second‐cousin, first‐cousin‐once‐removed and first‐cousin. A higher percentage of CUD was found in the offspring of consanguineous marriages: about 3.37% out of 741 children as compared to 1.22% in 980 offspring of non‐consanguineous marriages, whereas in the first‐cousin offspring, the percentage of CHD rose to 4.41%. The differences were found to be statistically significant. The present study suggests a genetic influence and also casts doubt on the applicability of a polygenic threshold model to all forms of cardiac

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04032.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

The rare apolipoprotein C‐II (apoC‐II) mutation, apoC‐IILys19→Thr, also known as apoC‐II‐v, has been found previously in association with hyperlipoproteinemia. From a lipid clinic screening we identified three unrelated individuals who had the apoC‐IILys19→Thrmutation. Among eight family members of one proband, we have found another four who were affected. None of the inviduals in this kindred is dyslipidemic and there is no difference in lipid levels between affected and unaffected family members. Therefore, we conclude that the presence of this apolipoprotein variant by itself has no effect on lipoprotein levels. In addition, the apolipoprotein E (apoE) isoform, apoE4 does not have a synergistic effect on lipoprotein levels in this kindred, in contrast to observations on the interaction of apoE4 with another apoC‐II mutant (apoC‐IIToronto). The single nucleotide substitution that causes the apoC‐IILys19→Thrvariant introduces a previously unrecognized restriction site (for Mae III), that prov

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04033.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

In the Portuguese population the most frequent form of Gaucher disease is type 1. The N370S glucocerebrosidase gene mutation accounts for 63% of mutated alleles. The frequency of this mutation was accurately determined in the Portuguese population, which does not present an Ashkenazi Jewish genetic background. A gene frequency of 0.0043, with 95% confidence limits between 0.0023 and 0.0063, was obtained studying the genomic DNA of 2000 blood cards randomly sampled from the national neonatal screening program. On the basis of this frequency a significantly high number of homozygotes for the N370S mutation should be expected in the Portuguese population. This finding supports the idea that the majority of homozygotes for this mutation present a very mild clinical phenotype and remain undiagnosed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04034.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

This report concerns two patients with clinical features typical for tetrasomy 18p syndrome. Chromosomal analysis revealed a male karotype in both cases, with an additional small metacentric marker chromosome, putatively an i(18p). Fluorescentin situhybridization with a chromosome 18‐specific paint confirmed that the marker chromosome consisted of chromosome 18 material in both case

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04035.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

A boy with ade novotranslocation t(5;8)(q11;p23) and an isochromosome 5p is described. The main clinical features found in the complete trisomies 5p are reviewed and the mechanisms of the chromosomal rearrangements involving centromeric and telomeric regions are discussed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04036.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

General population screening for cystic fibrosis carrier status in the United Kingdom would detect 72% of at‐risk couples. Proper counselling would allow these couples to make informed reproductive choices, including the possibility of prenatal diagnosis and the termination of an affected pregnancy. However, children with cystic fibrosis born in this decade, given optimum treatment, now have an average life expectancy of 40 years, and there is no unanimity of opinion on how, where, when, or even if, screening should be offered. The purpose of this questionnaire‐based study was to examine the attitudes of an adult clinic population who have grown up with cystic fibrosis, and of their parents, towards genetic screening programmes and the controversies and ethical dilemmas surrounding such programmes in cystic fibrosis. Both patients and parents supported prenatal screening (88% and 90%) and the option of terminating an affected pregnancy (68% and 84%). Only 22% of patients and 10% of parents felt that screening should be limited to families with a history of cystic fibrosis, and 19% and 6%, respectively, that prenatal diagnosis should be restricted to those with a previous child with cystic fibrosis. Despite the negative aspects of any screening programme and the acknowledged ethical problems peculiar to cystic fibrosis, the conclusion of our patients and parents who have lived intimately with the illness is that there should be the option of utilising information available from genetic screening for cystic fibrosis to guide reproductive choices. Pilot programmes to define the optimum management of such screening should conti

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04037.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1994.tb04038.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY