this study was conducted to determine the location of dna segment with homology to the rat conserved genomic dna in human chromosomes. the labeled rat genomic dna was hybridized with normal human (male) metaphases. the study of 74 metaphases after fluorescence in situ hybridization showed 371 twin-spot signals on human chromosomes. statistical analysis indicated that the specific accumulation o...

GD, a lysosomal storage disorder is caused by a defect in the housekeeping gene lysosomal glucocerebrosidase which is present on the first chromosome (1q22)3. It was first described by a French physician, Philippe Charles Ernest Gaucher in a 32-year-old woman whose liver and spleen were enlarged. The incidence of GD worldwide is approximately 1/57,000 to 1/75,000 births. In Ashkenazi Jews, the ...

Recent studies in mice and human identified osteocalcin (OCN) as a bone-derived hormone that modulates insulin secretion and insulin sensitivity. OCN is synthesized by the bone gamma-carboxyglutamate protein (BGLAP) gene located in the well replicated region of type 2 diabetes (T2D) linkage on chromosome 1q22. We resequenced BGLAP gene in 192 individuals with T2D and performed case-control stud...

Mycosis fungoides (MF), the most common cutaneous T-cell lymphoma, is a malignancy of mature, skin-homing T cells. Sézary syndrome (Sz) is often considered to represent a leukemic phase of MF. In this study, the pattern of numerical chromosomal alterations in MF tumor samples was defined using array-based comparative genomic hybridization (CGH); simultaneously, gene expression was analyzed usin...

Brain metastasis is a major complication of non‑small cell lung cancer (NSCLC) and leads to most of the mortality of this disease. However, the biological mechanisms and molecular features in brain metastasis of NSCLC are poorly understood. In the present study, we compared whole‑genome copy number variations (CNVs) between a primary lung adenocarcinoma and secondary metastatic brain lesion fro...

Upstream stimulatory factor 1 (USF 1), is a transcription factor controlling expression of several genes involved in lipid and glucose homeostasis and co-localizes with familial combined hyperlipidemia (FCHL) and type 2 diabetes on chromosome 1q22-23. We sequenced USF1 in 24 UK FCHL probands, but found no rare or common cSNPs. Three common intronic single nucleotide ploymorphisms (SNP), 306A>G,...

Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous peripheral neuropathy. The objective of this study was to find the causative mutation(s) in a demyelinating autosomal dominant CMT family. A high density SNP-based genome-wide linkage scan was performed, and causative mutations were determined by sequencing of candidate genes in the linkage disequilibrium region. Li...

Many cytogenetic alterations are known to occur in urinary bladder cancer, but the significance of most of them is poorly understood. To define these chromosomal regions where clinically relevant genes may be located, a series of 54 pT1 urinary bladder carcinomas with clinical follow-up information (median, 52 months; range, 5-167 months) were examined by comparative genomic hybridization. The ...