An EST and STS-Based YAC Contig Map of Human Chromosome 9q22.3

Lench, Nicholas; Telford, Elizabeth A.R.; Andersen, S. B.; Moynihan, Terry P.; Robinson, Philip A.; Markham, AF

doi:10.1006/geno.1996.0616

Cited by 15 publications

(9 citation statements)

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“…Using a combination of genetic and physical mapping, Hahn et al (1996) described the position of PTCH as: (cen) D9S280 -FACC-PTCH -D9S287 (tel). However, the yeast artificial chromosome (YAC) contig of Johnson et al(1996) gives the order as: (cen) D9S196 -D9S197 -D9S1816 -D9S1809 -PTCH-FACC -D9S280 -D9S287 (tel) and the YAC contig presented by Lench et al (1996) shows the order of the polymorphic markers as: (cen) FACC -D9S287 -D9S1809 -D9S280 -XPA -D9S180 (tel). It seems likely therefore that many of the YAC clones isolated from this region of chromosome 9q are prone to deletion or rearrangement.…”

Section: Discussionmentioning

confidence: 99%

Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group A (XPA) and PATCHED (PTCH) as candidate genes

et al. 1997

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The MSSE gene predisposes to the development of multiple invasive but self-healing skin tumours (multiple self-healing squamous epitheliomata, MSSE). MSSE (previously named ESS1) was mapped to chromosome 9q by linkage analysis; haplotype analysis in families then suggested a common founder mutation and indicated that the gene lies in the interval D9S1-D9S29 (9q22-q31). Squamous cell carcinomata also develop as one of the complications of xeroderma pigmentosum, and one of the xeroderma pigmentosum genes (XPA) maps within the MSSE interval. We have investigated the hypothesis that a novel dominant mutation in XPA is responsible for MSSE. We screened the entire coding region, 3' untranslated region (UTR) and 5'UTR of XPA for germline mutations in MSSE families by single-stranded conformation polymorphism analysis and by direct DNA sequencing. No mutations were detected but a novel intragenic polymorphism was identified in the 5'UTR of XPA, in both MSSE-affected and unrelated normal individuals. This XPA polymorphism and nine new polymorphic markers that map in the MSSE region were typed in eleven MSSE families; XPA was excluded as the MSSE gene and the most likely location of MSSE was reduced to the interval between D9S197 and (D9S287, D9S1809). The Patched (PTCH) gene, which is mutated in naevoid basal cell carcinoma syndrome (NBCCS or Gorlin syndrome) lies in this interval and all MSSE families have been shown to share a common haplotype at three novel intragenic PTCH polymorphisms. Although no mutation has been detected in MSSE families, PTCH has not been excluded as the MSSE gene.

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Section: Discussionmentioning

confidence: 99%

Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group A (XPA) and PATCHED (PTCH) as candidate genes

et al. 1997

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“…However, as patients from consanguineous marriages who complained of typical symptoms were investigated to find the mutant allele common to their parents [6], by screening for the 4-bp deletion in exon 4 among the other 14 family members, the suspected person (II-1) was confirmed to be another HFI patient, and eight asymptomatic persons including their parents were detected to carry the same mutation on one of their alleles, which confirmed that the mutation followed Mendelian inheritance. Human ALDOB gene, located on chromosome 9q22.3, is 14.5 kb long and has 9 exons, the first of which is untranslated [6][7][8]. The cognate mRNA encodes 364 amino acids [9].…”

Section: Discussionmentioning

confidence: 99%

Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance

Chi

Hong

Yang

et al. 2007

Endocr

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Hereditary fructose intolerance (HFI) is an inheritable disorder of fructose metabolism, inherited as an autosomal recessive disorder and caused by catalytic deficiency of aldolase B, which is critical for gluconeogenesis and fructose metabolism. The affected individuals develop severe hypoglycemia after taking foods containing fructose and cognate sugars. The exons 2-9 of the aldolase B (gene symbol ALDOB) gene from one Chinese HFI patient were amplified by the polymerase chain reaction (PCR), and direct sequence determination was applied to the amplified fragments. The mutation of a 4-bp (AACA) deletion (479_482 del) in exon 4 of ALDOB gene was identified in the patient, which had been reported to cause a frameshift at codon 118 and a truncated protein of 132 amino acids in the previous study. Then, the second case with the same homozygote deletion and eight cases with heterozygotes had been found through screening for the mutation c.479_482 del AACA in the whole family. This is the first report of HFI with the mutation c.479_482 del AACA in the ALDOB gene in a Chinese family.

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“…1 are in close agreement with the Géné thon linkage map, Whitehead Institute radiation hybrid map, and the chromosome 9-specific maps of Povey et al (22) and Collins et al (6). The interval covered by our map overlaps and proximally extends several other YAC maps that have been described for chromosome 9q22.3-q31 (13,15,17,31). These previously described maps conflict in the order of some markers distal to D9S196.…”

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confidence: 68%

A YAC-Based Transcript Map of Human Chromosome 9q22.1–q22.3 Encompassing the Loci for Hereditary Sensory Neuropathy Type I and Multiple Self-Healing Squamous Epithelioma

et al. 1998

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An EST and STS-Based YAC Contig Map of Human Chromosome 9q22.3

Cited by 15 publications

References 2 publications

Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group A (XPA) and PATCHED (PTCH) as candidate genes

Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group A (XPA) and PATCHED (PTCH) as candidate genes

Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance

A YAC-Based Transcript Map of Human Chromosome 9q22.1–q22.3 Encompassing the Loci for Hereditary Sensory Neuropathy Type I and Multiple Self-Healing Squamous Epithelioma

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