GENETIC DISORDERS ARE TRADITIONALLY CATEGORIZED INTO THREE MAIN GROUPS: single-gene, chromosomal, and multifactorial disorders. Single gene or Mendelian disorders result from errors in DNA sequence of a gene and include autosomal dominant (AD), autosomal recessive (AR), X-linked recessive (XR), X-linked dominant and Y-linked (holandric) disorders. Chromosomal disorders are due to chromosomal ab...

contained a chromosome 7 abnormality (also mostly monosomy 7). Four of 11 patients with complex karyotype including aberrations of chromosome 7 showed cytogenetic responses (Figure 1; Table 1) compared with 2 responders of 9 patients with complex karyotype not containing a chromosome 7 abnormality. This high response rate in patients with chromosome 7 abnormalities is in stark contrast to the n...

Myelodysplastic syndromes (MDS) are a group of heterogeneous hematologic diseases. Chromosomal aberrations are important for the initiation, development, and progression of MDS. Detection of chromosomal abnormalities in MDS is important for categorization, risk stratification, therapeutic selection, and prognosis evaluation of the disease. Recent progress of multiple techniques has brought powe...

Present study was carried out on some reported repeat breeder individuals (n=08) of nondescript cows at Para-veterinary hospital, University of veterinary and Animal Sciences, Ravi Campus, Pattoki. Nondescript cows has major share, which is approximately 70% in cattle farming in Pakistan. Chromosomal preparations were made using blood culture from animals under study. About 50 metaphase spreads...

The effects of mitomycin C (MMC) and ethyl methanesulfonate (EMS) on the frequency of structural and numerical chromosomal aberrations were evaluated in bovine peripheral lymphocytes in vitro using fluorescence in situ hybridization (FISH) technique. Three whole chromosome painting probes (WCPs), BTA 1 for the bovine chromosome 1 (red colour), BTA 5 for chromosome 5 (green colour) and BTA 7 for...

Authors compared the incidence of chromosomal aberrations (CAs) of workers occupationally exposed to cytostatics (group EXP1) or anaesthetics (group EXP2) in relationship to polymorphism of GSTM1, GSTP1 and GSTT1 genes. The cytogenetic analysis for chromosomal aberrations frequency and for polymorphisms of genes the PCR and PCR-RFLP method were used. Statistically higher frequency of total CAs ...

Male infertility is often described in terms of role played by Y chromosome and Yq microdeletions. But studies have shown that X chromosome, being enriched for testis specific genes plays a significant role in formation of mature spermatozoa. The couple under study had undergone treatments for infertility including 7 Intrauterine inseminations (IUI) and 6 Invitro Fertilization (IVF) cycles but ...

The long-term "fate" of normal human cells after single hits of charged particles is one of the oldest unsolved issues in radiation protection and cellular radiobiology. Using a high-precision heavy-ion microbeam we could target normal human fibroblasts with exactly one or five carbon ions and measured the early cytogenetic damage and the late behaviour using single-cell cloning. Around 70% of ...

Health hazards resulting form the exposure to high-Z and high energy particles such as carcinogenesis, damage to the central nervous system or cataractogenesis are of major concern in planning manned missions to Moon and Mars. Among these effects carcinogenesis is currently considered to be the main risk factor for astronauts. One important biomarker of cancer risk is the occurrence of chromoso...