摘要:

SUMMARYA partialcDNA clone of the glutathione S‐transferase 3 gene (GST3) was obtained by screening a Agtll human lung cDNA library with antiserum to human lung GST3. The sequence of this cDNA showed two base differences from the coding sequence of a GST3 cDNA isolated from a human placental cDNA library.Hybridization of the cloned GST3 cDNA to human chromosomes resulted in a primary peak of grains over band 11q13, a localization predicted by prior experiments. An unexpected strong secondary peak of grains was obtained over bands 12q13 and 12q14, indicating that there is a GST3‐like gene on the long arm of chromosome 12 in

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1989.tb01786.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

SUMMARYA cDNA clone complementary to the mRNA encoding the sperm‐specific lactate dehydrogenase, LDHC, has been used to map the LDHC locus to the short arm of human chromosome 11. In situ hybridization data and analysis of mouse/human somatic cell hybrids carrying deletions of human chromosome 11 suggest that the gene is localized at p15.3‐p15.5 close to the LDHA g

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1989.tb01787.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

SUMMARYIn witro DNA amplification allows multiplication of selected gene segments thereby improving the sensitivity in DNA analysis. Different allelic variants in the amplified DNA may be disclosed either by subsequent hybridization with allele‐specific oligonucleotides or by subsequent allele‐specific digestion with selected restriction endonucleases, followed by separation in agarose gel electrophoresis.The genes that code for human complement component C4 are polymorphic. Presently we demonstrate that allelic differences in C4, involving one base pair only, can be efficiently identified in the amplified DNA by each of the two techniques. A combination of both techniques may also be employed. The DNA amplification procedure may give access to selected ‘haploid’ fragments for individual DNA

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1989.tb01788.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

SUMMARHGlucose‐6‐phosphate dehydrogenase (G6PD) deficiency is common in Italy and recent biochemical and kinetic studies have demonstrated the presence of polymorphic variants associated with severe or mild enzyme deficiency. We performed a biochemical characterization of G6PD in a large number of Italian G6PD deficient men in an attempt to identify the most reliable biochemical indices for discriminating polymorphic G6PD variants and to define their distribution throughout the country. Three polymorphic G6PD variants, respectively named Mediterranean, Cagliari and Sassari, were identified. The elution profile on DEAE‐Sephadex column chromatography, substrate analogue utilization and the Michaelis constant for G6P were the most significant parameters to discriminate polymorphic variants among the variants with activity levels lower than 0.8 IU/g Hb. The distribution of the polymorphic variants, in relation to the origin of the subjects studied, differs throughout the co

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1989.tb01789.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

SUMMARYA collaborative analysis was undertaken of 226 karyotypes with structural chromosome abnormalities diagnosed primarily with low level banding resolution, about 300 to 400 bands per karyotype. We estimate that in this series, use of low level banding was required to detect about 78% of pericentric inversions, about 51% of reciprocal translocations, about 47% of all balanced translocations, about 35% of unbalanced rearrangements other than rings, Robertsonian translocations and extra structurally abnormal chromosomes, about 11% of all unbalanced rearrangements, and about 35% of all structural abnormalities. Adjustment factors derived from these figures were applied to prevalence and mutation rates of structural mutation rates derived from published large scale studies of livebirths. Had low level banding been used in these earlier studies we estimate that the rate of all structural abnormalities would have been about 60% higher than those reported (3.8 per 1000vs.2.3 per 1000 in the original studies). The increase is much higher for balanced abnormalities, 75% (3.4 per 1000vs. 1.9 per lOOO), than for unbalanced abnormalities, 5% (0.42 per 1000vs. 0.405 per 1000). The increase in mutation rates forde novocytogenetic abnormalities was similarly, considerably higher after such adjustment: the rates per 100000 gametes increased from 18.0 to 35.0 for balanced rearrangements, from 8.2 to 10.1 for unbalanced abnormalities and from 26.2 to 45.1 for all abnormalities. These estimates illustrate the difference even low level banding makes to detection of structural cytogenetic abnormalities and why contemporary studies using such methods cannot be compared with earlier large scale population studies or livebirths without some type of adjustment such as those suggested here. Comparisons should be done at a constant level of diagnostic resolution, e.g. limited to lesions detectable without banding.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1989.tb01790.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

SUMMARYMale and female sibs born to third‐cousin parents presented with mental retardation, microcephaly, short stature, juvenile onset limb‐girdle muscular dystrophy and multiple chromosome mosaicism in lymphocytes and fibroblasts. Different aneuploidies (mostly trisomies) were found in 15–20% of the cells and trisomies for the chromosome 8 and chromosome 7 predominated in lymphocytes and fibroblasts respectively, while monosomies were rare. Increased cellular death due to aneuploidy could explain symptoms such as mental and growth retardation and microcephaly. This could be an instance of an autosomal recessive mitotic mutant, possibly affecting a protein simultaneously involved in spindle apparatus and muscle fun

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1989.tb01791.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

SUMMARYThe distribution of surnames of the living immigrants in the population of the town of Ferrara was studied by sex of immigrants and by distance of their place of origin from Ferrara. It was found that isonymy decreases with distance from the place of origin and that there is sexual dimorphism in migration distance: females migrate preferentially at short distances and males at long and very long distances. As indicators of the abundance of surnames in a distribution, the common ecological indices derived from entropy were used, and compared between migration ranges. It was found that redundancy, like isonymy, decreases with migration distance, and that it may be useful in detecting very‐long‐distance migrat

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1989.tb01792.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

SUMMARYThe logic of a program for multiple pairwise linkage analysis under interference is set forth, including a seriation algorithm to obtain a trial order, a mapping bootstrap to improve the trial order, and three procedures for quality control to detect mistyping. This approach is compared with multipoint analysis under null interference, which substantially overestimates map length and cannot incorporate a variety of data.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1989.tb01793.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

SUMMARYThe likelihood method of optimizing the position of loci within a given order using data from pairs of loci is discussed in relation to Fisher's paper of 1922 and to recent data on chromosome 22 in man.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1989.tb01794.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

SUMMARYA method of analysis of suitable many‐locus linkage data used by Fisher in 1922 is reexamined in detail, and it is pointed out that it could be used also in human genetics as a simple method for preliminary examination of dat

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1989.tb01795.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY