We previously reported suggestive linkage between type 2 diabetes and markers in a region on chromosome 20q using data from a collection of 29 Caucasian families in which type 2 diabetes with middle-age-onset was segregated as an autosomal-dominant disorder. To map more precisely the susceptibility locus (or loci) within this broad region, we increased the family collection and genotyped all fa...

Somatic chromosome spreads from maize (Zea mays L.) plants containing B-A translocation chromosomes undergoing the chromosome type breakage-fusion-bridge cycle were examined by FISH. The size and type of extra chromosomes varied among cells of the same individual. A collection of minichromosomes derived from the chromosome type breakage-fusion-bridge cycle was examined for the presence of stabl...

We report a patient with cat eye syndrome and interrupted aortic arch type B, a typical finding in the 22q11.2 deletion syndrome. Chromosomal analysis and fluorescent in situ hybridization (FISH) showed a supernumerary bisatellited isodicentric marker chromosome derived from chromosome 22. The segment from 22pter to 22q11.2 in the supernumerary chromosome found in our patient does not overlap w...

chromosomal defects are relatively frequent in infertile men however, translocations between the y chromosome and autosomes are rare and less than 40 cases of y-autosome translocation have been reported. in particular, only three individuals has been described with a y;21 translocation, up to now. we report on an additional case of an infertile man in whom a y;21 translocation was associated wi...

Incidence of the loss of heterozygosity on chromosome 3p was evaluated using 7 polymorphic probes in 35 Japanese patients with sporadic renal cell carcinoma (RCC). Overall frequency of the loss of heterozygosity on 3p was 53%, representing 16 of 30 informative cases. Examination of the relationship between histopathological phenotypes of RCC and incidence of the 3p loss revealed that the loss o...

Bone marrow cells of a 45-year-old female with Philadelphia chromosome (Ph1)-positive, early-phase chronic myelogenous leukemia (CML), who was heterozygous for the glucose-6-phosphate dehydrogenase (G6PD) locus, were pretreated in vitro with 4-hydroperoxycyclophosphamide (4-HC) and tested for G6PD activity in several colony formation assays and for karyotypic abnormalities. All cells within the...

Background: Lymphocytes of Fanconi anemia (FA) show an increased sensitivity to the alkylating agents such as mitomycin C (MMC), but their responses to gamma-irradiation is controversial. The extent of DNA damage in leukocytes of FA patients following irradiation and MMC treatment was studied at cellular and single chromosome level. Methods: DNA damage induced by gamma-rays and MMC was measure...

In an attempt to understand better the molecular basis of chromosome aberration formation, neocarzinostatin (NCS)-induced damage and repair were compared at the chromosome and DNA levels. Chromosome damage and repair in quiescent normal human fibroblasts (PA2 and DET 550) were assayed by the premature chromosome condensation technique in which the G1 prematurely condensed chromosomes are conden...

Protein tyrosine phosphatases (PTPases) regulate the tyrosine phosphorylation of target proteins in‌volved in several biological activities including cell proliferation and transformation. Protein tyrosine phosphatase E (PTPE) contains duplicated PTPase-like domains and a short extracellular region. Us‌ing the fluorescence in situ hybridization method, the gene encoding PTPE (locus symbol Ptpre...