摘要:

SummaryAlthough mitochondrial aldehyde dehydrogenase (ALDH2) has been thought to play a major role in acetaldehyde detoxification, and the high incidence of ‘alcohol flushing’ among Orientals is attributed to the inherited deficiency of ALDH2, the role of cytosolic aldehyde dehydrogenase (ALDH1) cannot be ignored. On the premise that alcohol flushing in Caucasians could be related to ALDH1 abnormalities, we examined the enzyme properties and electrophoretic mobilities of ALDH1 partially purified from red blood cells of nine unrelated alcohol flushers. One exhibited very low activity (10–20% of control level), and another exhibited moderately low activity (60%) and altered kinetic properties. The electrophoretic mobilities of these two samples were also distinguishable from the control samples. Immunological quantitation indicated that the amounts of ALDH1 protein in these two samples were not reduced in parallel with their enzyme deficiency. In the first case, the two characteristics, i.e. very low enzyme activity and alcohol flushing, were inherited by her dau

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1989.tb01116.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

SummarySeveral DNA sequences from two homologous regions, localized on the distal part of the human X chromosome short arm and on the long arm of the Y chromosome, have been hybridized to DNAs from seven human‐rodent hybrids containing human X; Y translocation chromosomes. Molecular characterization of the translocated chromosomes has revealed, in all but one case, transfer of the Y cluster of sequences and complete deletion of the corresponding X‐chromosomal sequences. The possible role of X/Y homology in the aetiology of X; Y translocations is propo

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1989.tb01117.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

SummaryA cDNA corresponding to the β‐subunit of the human fibronectin receptor (β‐FNR) was used as a probe in Southern blot analysis of mouse/human somatic cell hybrid DNAs and inin situhybridization to metaphase chrmosomes. The β‐FNR cDNA detects sequences prosent on parent of the somatic cell hybrids.In situhybridization refined the localization of human sequences reacting with the β‐FNR cDNA to 10p11.2. The A‐1A5 monoclonal antibody which recognizes the beta‐subunit of the fibronectin receptor on the cell surface was used to confirm that the sequences present on chromosome 10 correspond to those required for expr

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1989.tb01118.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

SummaryWe have isolatd and sequenced a cDNA clone (pB8) that codes for a novel member of the dcytochrome P450IIC sub‐family of man. Analysis, by Southern blot hybridization, of DNA isolated from a panel of nine independent human‐rodent somatic cell hybrids demonstrated that the corresponding gene (CYP2C) is located on human chromosome 10. Northern blot hybridization of RNA isolated from human livers revealed a 10‐fold inter‐indicidual variation in the expression of t

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1989.tb01119.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

SummaryIn man evidence of autosomal recessive disease is usually based on a high sib risk, absence of parent‐child transmission and increased consanguinity. Discrimination from what are sometimes termed multifactorial disorders and their associated environmental effects is usually based on the latter having a lower recurrence risk, an increased recurrence risk after a second affected child and no increase in consanguinity.Another cause of familial disorders with recurrence restricted to sibs which has received little attention is germline mosaicism for a mutation expressed as a dominant. If, for example, an embryonic mutation resulted in half the precursors of the germ cells carrying a mutation with dominant expression, then the proportion of haploid nuclei conveying the mutation, which is the recurrence risk, would be a quarter. If severity precluded reproduction the disorder would tend to be classified as a recessive. While germline mosaicism will rarely be expressed with such a high recurrence risk, the estimation of this risk in rare disorders is difficult due to extreme and unpredictable bias in ascertainmen

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1989.tb01120.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

SummaryThe present study explores the origin of human Robertsonian translocations (RT) and the causes of the nonrandom participation of the different acrocentrics in them. Satellite associations have been analysed in 966 cells from 8 persons, and 1266 RT with ascertainment have been collected from the literature. The observation that the chromosomes preferentially taking part in satellite associations vary between individuals is confirmed. However, since a preferred chromosome appears to associate at random with the others, this phenomenon should not add to the nonrandomness of the RT.Most RT presumably arise through adjacent chromatid exchanges corresponding to mitotic chiasmata, in the pericentric regions of the acrocentrics. Our working hypothesis is that there is a basic exchange rate between any two acrocentrics. The surplus of t(14q21q) is presumed to depend on these two chromosomes having a homologous pericentric region. The 10–20 times higher incidence of t(13q14q) as compared with other RT is best explained by crossing‐over between homologous, but relatively inverted, segments in these chromosomes. Of the 246 RT ascertained through repeated abortions or infertility, 56 were found through the latter. Of these, chromosome 14 was involved in 51. The infertility may be caused by a small deletion of 14q, as is often the case in 15q in Prader‐Willi syndrome. In all RT ascertained through 21 or 13 trisomy, respectively, the relevant chromosome is one of the participants. Our data thus do not give any support to the idea of interchromosomal effects exerted

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1989.tb01121.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

SummaryCalculation of multilocus lod scores presents challenging problems in numerical analysis, combinatories, programming, and genetics. It is possible to accelerate these computations by exploiting the simple pedigree structure of a CEPH‐type pedigree consisting of a nuclear family plus all four grandparents. Lathropet al.(1986) have done’ this by introducing likelihood factorization and transformation rules and Lander&Green (1987) by the method of ‘hidden Markov chains’. The present paper explores an alternative approach based on genotype redefinition in the grandparents and systematic phase elimination in all pedigree members. All three approaches accelerate the computation of a single likelihood. Equally relevant to multilocus mapping are search strategies for finding the maximum likelihood estimates of recombination fractions. Hybrid algorithms that start with the EM algorithm and switch midway to quasi‐Newton algorithms show promise. These issues are investigated in the context of a simulated 10 locus example. This same example allows us to illustrate a simple strategy for determining lo

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1989.tb01122.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1989.tb01123.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1989.tb01124.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY