摘要:

SUMMARYBy biochemical characterization of glucose‐6‐phosphate dehydrogenase (G6PD) from the red cells of seventeen subjects of the population of Matera (Southern Italy) we have identified six genetically determined common variants. Among these, G6PD Metaponto and G6PD A(–) Matera had been already fully characterized. We have now found that A(–) Matera is genetically heterogeneous since one of two subjects examined had the two mutations at codons 68 and 126 characteristic of a typical A(–) variant, while the other subject had only the codon 126 mutation. G6PD Pisticci and G6PD Tursi are two new variants whose molecular lesion is not yet known. G6PD Cagliari‐like has biochemical characteristics reminiscent of G6PD Cagliari, isolated in Sardinia, and was found to have the same nucleotide substitution as G6PD Mediterranean. G6PD Montalbano is a new variant, with nearly normal properties, due to a G→A transition which causes an Arg→His amino acid replacement

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1990.tb00355.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

SUMMARYA 5' fragment of a full‐length cDNA clone encoding a human phenol UDP‐glucuronosyltransferase was used to produce a specific probe for this gene. DNA isolated from a panel of 18 human‐rodent somatic cell hybrids was analysed by Southern‐blot hybridization. The results indicate that this UDP‐glucuronosyltransferase is encoded by a single gene, designatedGNT1,located on human chr

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1990.tb00356.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

SUMMARYA cosmid clone (CosHcol.11) containing the α2(XI) collagen gene (COL11A2) has been isolated. The gene contains conserved DNA and amino‐acid sequences characteristic of fibril forming collagen, which is in accordance with the classification of type XI collagen as a fibrillar collagen. The genomic clone containing the α2(XI) gene has been used as probe in the Southern blot analysis of DNA from a panel of human/hamster somatic cell hybrids containing different numbers and combinations of human chromosomes. Synteny analysis revealed that only chromosome 6 showed complete concordant segregation withC0L11A2.Furthermore, the gene was regionally mapped to the short arm of chromosome 6 by using a hybrid which contained only the long arm of the chromos

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1990.tb00357.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

SUMMARYNine probes were isolated from a human chromosome 1 enriched library and mapped to regions of chromosome 1 using somatic cell hybrid lines. One clone, LR67, which mapped to 1q12 → q23 detected a BglI RFLP. This probe, as well as 4 other known chromosome 1 markers, α‐spectrin, Factor XIIIB, DR10 and DR78, were used for linkage studies in 15 Charcot‐Marie‐Tooth disease (CMT1) families. Close linkage of CMT1 to any of the 5 markers was not indicated. Total lod scores excluded linkage of CMT1 to LR67 and to DR10 at 5 cM or less, to DR78 at 10 cM or less, α‐spectrin at 15 cM or less and Factor XIIIB at 20 cM or less. Possible linkage, however, was shown between LR67 and CMT1 at a distance of 30 cM. Also linkage at a distance of 5 cM was detected between this probe and

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1990.tb00358.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

SUMMARYA centromere map is derived from XXX and XXY trisomies of maternal origin. Preliminary data suggest reduced recombination in the tetrads giving rise to mei I nondisjunction, but an excess of recombination in the pericentric region. As inDrosophila, multichiasmate tetrads may be more at risk of nondisjunction than nullochiasmate tetrads.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1990.tb00359.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

SUMMARYSperm typing is a promising new approach for fine‐structure human gene mapping. We examine three‐locus sperm typing and its implications for the estimation of recombination fractions and for locus ordering. In particular, we compare some sequential stopping rules for three‐locus order assignment and develop methods for approximating their mean stopping times and error probabilities. A stopping rule recently described by Thompson and Boehnkeet al.appears to be nearly optimal. Under this rule, one stops sampling as soon as the number of sperm of the least frequent recombinant type issfewer than the number of sperm of the next least frequent type. We develop a random‐walk algorithm and some heuristic formulas for assessing the performance of this rule.Since the broader goal of linkage analysis is to order many more than three loci, we propose a trisection strategy for ordering a new locus relative to an existing ordered set of loci. The crux of the trisection strategy is to restrict attention to the smallest block of ordered loci among which the new locus can fall and to divide this block into thirds for the next comparison. This trisection strategy is optimal in the sense that it has the best worst‐case performance of any strategy. When it is applied sequentially to order a collection of loci, it is only nearly optimal, as we demonstrate by specific counter‐example. However, it does become asymptotically optimal as the size of the collectio

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1990.tb00360.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

SUMMARYA hierarchical partition of the Wright coefficient of inbreeding(F)is shown for an isolated population (about 2000 inhabitants) from a mountainous region of Tuscany (Italy) with regard to both surnames and genes. At total population level surname variation proves substantially consistent with the observed genetic differentiation of the isolate. Analysis of parental isonymy reveals that the population is structured in subunits and it is concluded that the unit population of the region may be very small, practically coinciding with the village (less than 500 inhabitants). The agreement of ‘demographic’ and genetic structures is less satisfactory at this level, partly because of subsample size, but we conclude that analysis of surnames may give at least a rough idea of the genetic structure of the populat

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1990.tb00361.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

SUMMARYBias and inefficiency of Bernstein's estimator of the recessive allele frequency in generalized ABO‐like systems are important for situations where the frequency is small and the number of codominant alleles is large. A modified Bernstein's estimator of the recessive (Smith, 1967) has much smaller bias and higher efficiency than Bernstein's for large samples. Analogous findings are generally observed for small and moderate samples by Monte Carlo experiments. The modified method is preferred for the recessive frequency in the HLA system. The results are illustrated by numerical example

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1990.tb00362.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1990.tb00363.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

Book reviewed in this article:Garrod's Inborn Factors in Disease. A facsimile reprint complemented by essays by CharlesR. Scriverand BartonChildsand with a Foreword by Joshua Lederberg.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1990.tb00364.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY