Jane McCombs

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Ceruloplasmin (CP) is a copper-binding protein in vertebrate plasma. It is the product of an intragenic triplication and is composed of three homologous domains. Oligonucleotide probes constructed according to published amino acid sequences were used to identify cDNA clones encoding human CP. Two clones, CP-1 and CP-2, differed from each other by the(More)
Seven terminal deletions and four interstitial deletions of 6q have been reported. We present the clinical and cytogenetic findings of these cases and of two new patients with different interstitial deletions of 6q. Although there are too few cases of interstitial deletions to identify one or more clinical syndromes associated with monosomies of the more(More)
We present two children--one, 47,XY, + mar, and the other, 47,XY, + 21. Both fathers were found to have a 47,XYY chromosome constitution. The initial assumption was that the fathers' aneuploid conditions contributed to those of the offspring. However, the derivation of the marker chromosome could be paternal, maternal, or postzygotic, and examination of(More)
Previous studies by Southern blot analysis of human X mouse somatic cell hybrids localized the renin gene to region p21----qter of human chromosome 1. Using a DNA insert encoding exons 2-5, the renin gene was mapped to human chromosome bands 1q25----q32 by in situ hybridization. The sublocalization of the renin gene will facilitate subsequent detailed(More)
A cDNA clone of the argininosuccinate lyase gene (ASL) was isolated from an adult human liver library by probing with synthetic oligonucleotide probes. This clone and a yeast genomic DNA fragment containing the ASL gene were sequenced using the M13-dideoxynucleotide method. Comparison of the yeast and human clones at the nucleotide and putative amino acid(More)
We utilized an AFP-HPRT transgene, i.e. the HPRT coding sequences under the regulation of AFP enhancer and promoter sequences, to localize the AFP extinguisher locus in intertypic somatic cell hybrids (hepatoma X fibroblast). This hybrid gene construct, which directly links AFP regulation to a reversibly selective gene, enabled the selection of stably(More)
Human plasma protein alpha 2-HS-glycoprotein (AHSG) is composed of two polypeptide chains, A and B, encoded by a single mRNA. Southern blot analysis of mouse x human somatic cell hybrids has mapped the AHSG gene to human chromosome 3 in the region 3q21----qter (Lee et al., 1987). Using a recombinant plasmid containing a 1,538 bp insert spanning the entire(More)
Lactotransferrin (LTF) is an important member of the transferrin family of proteins. These proteins play an essential role in the transport of iron in extracellular fluid (Aisen and Listowsky, 1980). Southern blot analysis of mouse-human somatic cell hybrids have localized the LTF gene to region q21----qter of human chromosome 3 (Teng et al., unpublished(More)