A simple reproducible method for prometaphase chromosome analysis

Rybak, Joseph; Tharapel, Avirachan T.; Robinett, Sheldon; Garcia, Mary; Mankinen, C. B.; Freeman, Mahlon V. R.

doi:10.1007/bf00569213

Cited by 54 publications

(20 citation statements)

References 33 publications

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“…Specifically, a 1.2-kb Pst I fragment, which hybridized to the mouse cDNA probe, but not total mouse DNA, was subcloned to generate the sequence homologous to the first coding exon. A 4.5-kb EcoRI -fragment, which hybridized to two overlapping labeled 42-base oligonucleotides (5'-CACTGAACAAGAAA-TCCAAGAAGATCAGCAGAAAAGAAGCCG-3'; 5'-TTG-GAAGACCTCTTCCGCTTCTCGGCTTCTTTTCTGCT-GATC-3') complementary to the 5' or 3' ends of mouse (25). For regional mapping of the human agouti gene, the 17-kb genomic probe h2OB1 was labeled with biotin-16-dUTP (Boehringer Mannheim) by nick translation.…”

Section: Methodsmentioning

confidence: 99%

Molecular structure and chromosomal mapping of the human homolog of the agouti gene.

Kwon

Bultman

Löffler

et al. 1994

Proc. Natl. Acad. Sci. U.S.A.

154

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The agouti (a) locus in mouse chromosome 2 normally regulates coat color pigmentation. The mouse agouti gene was recently cloned and shown to encode a distinctive 131-amino acid protein with a consensus signal peptide. Here we describe the cloning of the human homolog of the mouse agouti gene using an interspecies DNA-hybridization approach. Sequence analysis revealed that the coding region of the human agouti gene is 85% identical to the mouse gene and has the potential to encode a protein of 132 amino acids with a consensus signal peptide. Chromosomal assignment using somatic-cell-hybrid mapping panels and fluorescence in situ hybridization demonstrated that the human agouti gene maps to chromosome band 20q11.2. This result revealed that the human agouti gene is closely linked to several traits, including a locus called MODY (for maturity onset diabetes of the young) and another region that is associated with the development of myeloid leukemia. Initial expression studies with RNA from several adult human tissues showed that the human agouti gene is expressed in adipose tissue and testis.

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Section: Methodsmentioning

confidence: 99%

Molecular structure and chromosomal mapping of the human homolog of the agouti gene.

Kwon

Bultman

Löffler

et al. 1994

Proc. Natl. Acad. Sci. U.S.A.

154

View full text Add to dashboard Cite

show abstract

“…Two high-resolution chromosome culturing techniques were used including the synchronization technique and/or actinomycin D pretreatment [Yunis, 1976;Yu et al, 1981;Rybak et al, 1982]. Chromosome 15 in patients and parents was evaluated using several other cytogenetic techniques including GTG, QFQ, RBG, and AgNOR.…”

Section: High-resolution Chromosome Studiesmentioning

confidence: 99%

Clinical and cytogenetic survey of 39 individuals with Prader‐Labhart‐Willi syndrome

et al. 1986

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In a clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome (PLWS) (23 males and 16 females ranging in age from 2 weeks to 39 years), an interstitial deletion of chromosome 15 (breakpoints q11 and q13) was identified in 21 cases and apparently normal chromosomes in the remainder. Studies of parental chromosome 15 variants showed that the del[15q] was paternal in origin, although chromosomes of both parents were normal. All chromosome deletions were de novo events. Possible causes for the chromosome deletion and the role of chromosome rearrangements in individuals with PLWS are discussed. Clinical characteristics of the deletion and nondeletion groups were recorded and compared with 124 individuals reported in the literature. Individuals with the chromosome deletion were found to have lighter hair, eye, and skin color, greater sun sensitivity, and higher intelligence scores than individuals with normal chromosomes. Correlation studies of metacarpophalangeal pattern profile variables and dermatoglyphic findings indicate apparent homogeneity of the deletion group and heterogeneity of individuals with PLWS and normal chromosomes.

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“…Every new case was cytogenetically analyzed with highresolution GTG-banding using either the ethidium bromide technique as described previously (Niikawa and Ishikiriyama, 1985) or the BrdU-Actinomycin D method (Rybak et al, 1982).…”

Section: Methodsmentioning

confidence: 99%

A molecular deletion study with southern hybridization on typical Prader-Willi syndrome (PWS) patients with various chromosome abnormalities involving 15q11–12 and on an atypical PWS patient with apparently normal karyotype

et al. 1988

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SummaryWe previously proposed a phenotype-karyotype correlation in the Prader-Willi syndrome (PWS). In order to confirm this hypothesis, we analyzed the genomie DNA of 10 clinically typical PWS patients with various chromosome 15 abnormalities, consisting of four [del (15) , and that of one atypical PWS patient with an apparently normal karyotype. Densitometric analyses on autoradiographic bands of Southern hybridization using two DNA segments, pML34 and pTD3-21, as probes revealed that all 7 patients with an interstitial deletion of 15q 11.2 or 15q 11.2-12 band had only one copy for each of the probes. In the two patients with an unbalanced translocation 15q;15q, two copies of each sequence were retained in spite of a visible deletion of band 15qll. This suggests that both of the two sequences may localize in flank of a critical region for the PWS phenotype. The copy number for the two probes was two in the case

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A simple reproducible method for prometaphase chromosome analysis

Cited by 54 publications

References 33 publications

Molecular structure and chromosomal mapping of the human homolog of the agouti gene.

Molecular structure and chromosomal mapping of the human homolog of the agouti gene.

Clinical and cytogenetic survey of 39 individuals with Prader‐Labhart‐Willi syndrome

A molecular deletion study with southern hybridization on typical Prader-Willi syndrome (PWS) patients with various chromosome abnormalities involving 15q11–12 and on an atypical PWS patient with apparently normal karyotype

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