摘要:

SummaryUsingin situhybridization, c‐erbA1 has been mapped immediately distal to the translocation breakpoint on chromosome 17 in fibroblasts with a karyotype 46, XX, t(15;17)(q22;q11). Previous work has shown that c‐erbA1 is proximal to the translocation breakpoint on chromosome 17 in the t(15;17)(q22;q12–21) in acute promyelocytic leukaemia. The oncogene can therefore be localized to the region of chromosome 17 between the breakpoints in 17q11 and 17q

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1985.tb01690.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

SummaryWe used a cloned cDNA probe for the B subunit of human aldolase (ALDB) and Southern blotting techniques to analyse DNA from a series of rodent x human somatic cell hybrids for the presence of specific ALDB‐related sequences. Our results provide evidence for the assignment of the gene for ALDB to chromosome 9. Moreover, by direct gene dosage determination in two patients with chromosome 9 unbalanced rearrangements and byin situhybridization we refined the regional chromosomal assignment to 9q13→q32 and most probably to 9q21.3→9

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1985.tb01691.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

SummaryA large linkage group has been assigned to chromosome 19. The loci have been ordered using a two‐point mapping analysis based on all available family linkage data summarized in the form of lod score table

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1985.tb01692.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

SummaryPreviously unpublished data on the chiasma frequency of individual bivalents identified by a triple staining technique are presented for four males. The total autosomal cell chiasma frequency and sex chromosome univalence frequency are also given for these males and for three others. All seven males had apparently normal 46, XY karyotypes and normal spermatogenesis. The extent of inter‐individual variation in cell and bivalent chiasma frequency and the gross relationship between chromosome length and chiasma frequency are discusse

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1985.tb01693.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

SummarySome unusual patterns of chiasma distribution were noted in a preliminary investigation of meiosis in an infertile male with an apparently normal mitotic karyotype and a normal mean autosomal cell chiasma frequency. A detailed investigation of chiasma distribution on all 22 autosomes revealed that several chromosomes showed a significant change in chiasma distribution and/or mean inter‐chiasma distance in comparison with previously published controls. These findings are discussed in relation to the general patterns of chiasma localization in the human male and the role of interferenc

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1985.tb01694.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

SummaryThe synaptonemal complexes of oocytes from 16–22 week human fetuses were spread using detergent, and silver‐stained for examination by light microscopy. Zygotene chromosome synapsis generally begins at the telomeres, without obvious prealignment, and proceeds towards the centromeres. Synapsis is not synchronous and longer bivalents may sometimes be completely paired before shorter ones. At pachytene, when pairing is usually complete, some regions presumed to correspond to the heterochromatic blocks of chromosomes 1, 9 and 16 may remain unpaired. Residual univalents are uncommon, and little interlocking is evident at this stage. Desynapsis indicating the beginning of diplotene frequently begins at the telomeres, although there is a general relaxation of pairing throughout the bivalents which become increasingly diffuse as diplotene proceeds. The total synaptonemal complex complement length at pachytene in the female is 519 μm, which is about twice that found in the human male. The implications of these results for genetic mapping are discu

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1985.tb01695.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

SummaryOnly one of the two mainl‐xylulose reductases present in human tissue is deficient in individuals with essential pentosuria (Lane, 1985). The isozyme which is affected by the pentosuria mutation occurs as mitochondrial and cytosolic forms in normal individuals, whereas the other isozyme (which is not affected by the mutation) occurs only in the cytosol. A new assay of red celll‐xylulose reductase activity has facilitated the identification of carriers of the essential pentosuria allele at both family and population levels. Reinvestigation of a Lebanese family in which pentosuria has previously been thought to be dominantly inherited reveals that the condition is recessively inherited in this family as well. A minimum estimate of the frequency of the pentosuria allele in an Ashkenazi‐Jewish population, calculated from the apparent heterozygote frequency, is 0·0127. The likelihood of the Ashkenazi and Lebanese pentosuria alleles being the same is dis

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1985.tb01696.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

SummaryAnalysis of hybrid cells containing fragments of human chromosome 2 has resulted in the regional localization of a gene for aryl hydrocarbon hydroxylase (AHH). Hybrids prepared from a human cell line containing an established translocation have shown thatAHHcan be localized to the region 2q31→2pte

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1985.tb01697.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

SummaryThe molecular cloning of cDNA for the human muscle specific carbonic anhydrase CAIII is described. The recombinant was isolated from a human muscle cDNA library prepared in the expression vector Λgt11, and was characterized by hybridization selection and immunoprecipitation. A comparison of insert cDNA and mRNA sizes suggests that the cDNA is full length and includes extensive untranslated sequences. Preliminary sequence data have confirmed the authenticity of this clone and Southern blotting of human and rodent DNA indicates that it will be a useful probe in the analysis of somatic cell hybrids

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1985.tb01698.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1985.tb01699.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY