225 results found
Bowcock AM, Ray A, Erlich H, et al., 1989, Rapid detection and sequencing of alleles in the 3' flanking region of the interleukin-6 gene., Nucleic Acids Res, Vol: 17, Pages: 6855-6864, ISSN: 0305-1048
The 3' flanking region of the interleukin 6 gene is polymorphic due to insertions of different size. Within this region lies a sequence of approximately 500 base pairs that is AT rich. Based on flanking sequence information we have constructed oligonucleotides which prime the polymerase chain reaction (PCR) and amplify this AT rich region. The amplification products visualized by agarose gel electrophoresis gave fragment sizes for both homozygous and heterozygous individuals that were concordant with those observed by conventional genomic blotting techniques. Alleles that could not be typed by Southern analysis were resolved with this approach. These results illustrate the value of PCR for the rapid detection of length polymorphisms such as those due to variable numbers of tandem repeats. In contrast to RFLP analysis this procedure takes less than a day to perform, is cheaper, avoids the use of radioactivity and requires far less substrate DNA. Three different human alleles were sequenced, and differences were detected that were due to both large duplications and loss of one or two bases, suggesting that AT rich regions identify highly polymorphic loci. The same primers also amplified non-human primate DNA, allowing a comparison of the human sequence with that of the common chimpanzee and baboon.
SHANNON KM, TURHAN AG, CHANG SSY, et al., 1989, FAMILIAL BONE-MARROW MONOSOMY-7 - EVIDENCE THAT THE PREDISPOSING LOCUS IS NOT ON THE LONG ARM OF CHROMOSOME-7, JOURNAL OF CLINICAL INVESTIGATION, Vol: 84, Pages: 984-989, ISSN: 0021-9738
Bowcock AM, Hebert JM, 1989, The anonymous DNA probe p7-26 identifying the locus [D7S17], reveals an XmnI polymorphism., Nucleic Acids Res, Vol: 17, ISSN: 0305-1048
FARRER LA, BOWCOCK AM, HEBERT JM, et al., 1989, IDENTIFICATION OF 2 CLOSELY LINKED AND FLANKING MARKERS TO THE WILSONS-DISEASE LOCUS, CYTOGENETICS AND CELL GENETICS, Vol: 51, Pages: 997-998, ISSN: 0301-0171
BOWCOCK AM, FARRER LA, HEBERT JM, et al., 1989, A FINE-STRUCTURE LINKAGE MAP FOR CHROMOSOME-13, CYTOGENETICS AND CELL GENETICS, Vol: 51, Pages: 966-967, ISSN: 0301-0171
Bowcock AM, Ray A, Erlich HA, et al., 1989, The molecular genetics of beta-2 interferon/interleukin-6 (IFN beta 2/IL6) alpha., Ann N Y Acad Sci, Vol: 557, Pages: 345-352, ISSN: 0077-8923
Bowcock AM, Farrer LA, Hebert JM, et al., 1988, Eight closely linked loci place the Wilson disease locus within 13q14-q21., Am J Hum Genet, Vol: 43, Pages: 664-674, ISSN: 0002-9297
Wilson disease (WD) is an autosomal recessive disorder resulting in an accumulation of copper in the liver, brain, and other organs. The WD locus (WND) has previously been linked to esterase D (ESD) and localized to 13q14-22. With the large Centre d'Etude Polymorphisme Humain cohort, a refined map of DNA markers from this region was constructed, with the following locus order: D13S1-D13S21-D13S22-D13S10-ESD-RB-WND-D 13S26-D13S12-D13S2. A significant excess of male recombination was observed between D13S21 and D13S22. Intervals distal to D13S22 showed an excess of female recombination. When these markers were tested on 19 WD families from a variety of ethnic backgrounds, the two closest loci were shown to be RB and D13S26. The retinoblastoma gene locus (RB) was shown to be proximal to WND at a distance of 4.4 centimorgans (cM), and D13S26 was placed distal to WND at a distance of 4.0 cM. ESD was assigned proximally at a distance of 9.4 cM. In all families studied WND was linked to one or more of the loci ESD, RB, or D13S26.
Bowcock AM, Kidd JR, Lathrop GM, et al., 1988, The human "interferon-beta 2/hepatocyte stimulating factor/interleukin-6" gene: DNA polymorphism studies and localization to chromosome 7p21., Genomics, Vol: 3, Pages: 8-16, ISSN: 0888-7543
The human interferon-beta 2 gene (IFNB2) product is identical to that for the B-cell stimulation factor-2 (BSF-2), the hybridoma growth factor (HGF) ("interleukin-6"), and the hepatocyte stimulating factor (HSF). Proteins derived from this gene mediate the plasma protein response to tissue injury (acute-phase response) and regulate the growth and differentiation of both B and T cells. By using the enzymes MspI, BstNI, and BglI, three polymorphic systems were detected with probes for the IFNB2 gene. The MspI and BglI polymorphisms are likely to be due to base pair substitutions; the BstNI polymorphism was revealed by nine other enzymes and is likely to be due to DNA insertions within 1 kb of the 3' flanking region of the gene. This region is rich in AT dinucleotides, and slippage at DNA replication may generate the insertions of between 0.07 and 0.23 kb that were observed. The polymorphic MspI site also lies within the vicinity of the fifth exon. The BglI polymorphic site is likely to lie in 5' flanking DNA. The three polymorphisms are separate, and a variety of haplotypes was observed. A low level of linkage disequilibrium exists between the MspI and the BglI alleles. MspI and BstNI polymorphisms were observed in Caucasoids, CAR Pygmies, Zaire Pygmies, Melanesians, and Chinese but at differing frequencies, and not all alleles were present in all populations. The BglI polymorphism was observed in Caucasoids and Africans only. Linkage studies involving the IFNB2 gene and 27 other chromosome 7 markers have localized it to between D7S135 and D7S370 at 7p22-p21.(ABSTRACT TRUNCATED AT 250 WORDS)
Bowcock AM, Fahnestock M, Goslin K, et al., 1988, The NGF and kallikrein genes of mouse, the African rat Mastomys natalensis and man: their distribution and mode of expression in the salivary gland., Brain Res, Vol: 427, Pages: 165-172, ISSN: 0006-8993
The kallikrein genes and their expression in the salivary glands of mouse, the African rat Mastomys natalensis and human were compared. The Mastomys kallikrein genes comprise a family of genes similar to those of mouse. Androgen markedly enhances transcription of glandular nerve growth factor (NGF) and kallikrein in both male and female Mastomys suggesting the presence of testosterone regulated kallikrein genes for growth factor precursor-processing in both sexes. In contrast, although a kallikrein transcript was detected in human salivary glands of the same size as the mouse or Mastomys transcript no difference in the amount of transcript was seen in adult male or female. The absence of kallikrein genes regulated by testosterone and of NGF transcripts in the human implies that there is no human equivalent of the mouse salivary 7S NGF complex.
Bowcock AM, Hebert JM, Wijsman E, et al., 1988, High recombination between two physically close human basement membrane collagen genes at the distal end of chromosome 13q., Proc Natl Acad Sci U S A, Vol: 85, Pages: 2701-2705, ISSN: 0027-8424
Two basement membrane collagen genes coding for the pro alpha 1 chain and pro alpha 2 chain of type IV collagen map to 13q34 and are linked with a maximum likelihood estimate of recombination of 0.028 at a logarithm of odds (lod) score of 19.98. The single-copy sequence that identifies the locus D13S3 is also closely linked to both collagen genes. Four enzymes reveal polymorphisms with COL4A1, and 10 haplotypes have been observed in Caucasoids. Within COL4A1 a nonrandom association of alleles exists only between alleles defined by Hae III and those defined by the other three enzymes. A random association of alleles of COL4A1 and COL4A2 is observed. Between the two collagen genes were detected three meiotic recombination events that contributed to the estimate of 2.8% recombination. This is higher than expected for two genes that lie within 650 kilobases of each other. The lack of linkage disequilibrium between COL4A1 and COL4A2 is in agreement with the relatively high recombination that is observed.
Bowcock AM, Hebert JM, Cavalli-Sforza LL, 1988, Polymorphisms revealed by random probe H2-10 [D13S26] which maps to chromosome 13q21-q22., Nucleic Acids Res, Vol: 16, ISSN: 0305-1048
FARRALL M, LATHROP M, SPENCE JE, et al., 1987, FURTHER DATA ON LINKAGE BETWEEN CYSTIC-FIBROSIS AND 7C22 (D7S16), AMERICAN JOURNAL OF HUMAN GENETICS, Vol: 41, Pages: 286-287, ISSN: 0002-9297
Bowcock AM, Farrer LA, Cavalli-Sforza LL, et al., 1987, Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13., Am J Hum Genet, Vol: 41, Pages: 27-35, ISSN: 0002-9297
Linkage of both several chromosome 13 DNA markers and the locus for the red cell enzyme esterase D (ESD) to Wilson disease (WD), an autosomal recessive disorder affecting copper metabolism, was investigated in five Middle-Eastern kindreds. The single-copy probe 7D2, identifying the polymorphic region D13S10, was demonstrated to lie 7.5 centiMorgans (cM) from the locus, since a maximum lod score of 4.66 at a recombination frequency of .07 (7.5 cM) was found between the locus for WD (WND) and D13S10. Multipoint linkage analysis between several chromosome 13 markers and WND enables us to propose that the order of markers closely linked to WND is as follows: centromere-D13S10-ESD-WND.
Bowcock AM, Bucci C, Hebert JM, et al., 1987, Study of 47 DNA markers in five populations from four continents., Gene Geogr, Vol: 1, Pages: 47-64, ISSN: 0394-249X
Forty seven DNA markers from 30 genes or chromosomal regions were investigated in five populations (Biaka and Mbuti Pygmies, Melanesians, Chinese and Caucasoids). Both the variation between populations (measured by FST) and between markers is highly significant. The average heterozygosity for all markers is .284 and the average FST is .145. There was no significant difference in the FST values, or in the average heterozygosity between known genes and random segments. The FST distance between all populations considered in pairs, and averaged over all loci favours a primary split between Eurasia and Africa, but this conclusion is neither statistically significant nor uncomplicated. Condensing the 47 markers into 30 "genes" where 10 were treated as haplotypes, it was found that the haplotypes always give higher FST's than the separate markers, although similar conclusions can be drawn.
Bowcock AM, Hebert JM, Christiano AM, et al., 1987, The pro alpha 1 (IV) collagen gene is linked to the D13S3 locus at the distal end of human chromosome 13q., Cytogenet Cell Genet, Vol: 45, Pages: 234-236, ISSN: 0301-0171
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