familial adenomatous polyposis (fap) is responsible for < 1% of colorectal cancer (crc) cases and is inherited as an autosomal dominant trait. patients generally present hundreds to thousands of adenomas and develop colorectal cancer by age 35- 40 if left untreated. here we report four patients with germline frameshift mutation (small deletion) at exon 15 of adenomatous polyposis coli (apc) tum...

background:  multiple  sclerosis  (ms) is a  chronic inflammatory  demyelinating  and  neurodegenerative disease  of central  nervous  system  with unknown  causes. etiology of ms involves  both  genetic  and  environment factors.  the  interleukin  7   receptor   (il7r)   gene   is  a promising candidate  for ms, because its involvement in the autoimmunity, regulation of the t-cell homeostasis...

background: human leukocyte antigen-g (hla-g) is a non-classical class i molecule highly expressed by extravillous cytotrophoblast cells. due to a single base pair deletion, its function can be compensated by other isoforms. investigating the frequency of null allele in recurrent miscarriage (rm) subjects could be useful in understanding the relationship between frequency of this allele and rm ...

AIM An attempt has been made to study the Myxovirus resistant (Mx1) gene polymorphism in Japanese quail. MATERIALS AND METHODS In the present, investigation four fragments viz. Fragment I of 185 bp (Exon 3 region), Fragment II of 148 bp (Exon 5 region), Fragment III of 161 bp (Exon 7 region), and Fragment IV of 176 bp (Exon 13 region) of Mx1 gene were amplified and screened for polymorphism b...

objective: since the identification of the two highly penetrant dominantly inherited genes, brca1/2, in the 1990s, a number of other genes have been identified which account for approximately 25% of the genetic basis for hereditary breast cancer. at least 75% are unidentified. the goal of this study is to investigate the presence or absence of a recessive pattern of inheritance in this heteroge...

The present study investigated the role of transcription in the regulation of insulin-like growth factor (IGF)-I expression in skeletal muscle. RT-PCR was used to determine endogenous expression of IGF-I pre-mRNA and mRNA in control (Con) and functionally overloaded (FO) rat plantaris. The transcriptional activities of five different-length IGF-I promoter fragments controlling transcription of ...

Transcripts derived from the 6 exon CALC I gene are differentially processed in a tissue-specific fashion to include or exclude a calcitonin-specific exon 4. All cell types which transcribe a second calcitonin/CGRP gene, CALC II, exclude exon 4. Substitution of the first 30 nucleotides of CALC I exon 4 with analogous CALC II sequence was sufficient to prevent recognition of exon 4 in in vitro o...

Background: Androgens are critical steroid hormones in progression of spermatogenesis process and determine the male phenotype that their actions are mediated by the androgen receptor (AR), a member of the nuclear receptor superfamily. In the Androgen receptor, transactivation domain encoded by exon 1, DNA binding domain encoded by exons 2 and 3, hinge region encoded by part of exon 4, and C-te...

ghrelin is a peptide hormone that is composed of 26 amino acids and leads to a positive energy balance and obesity through stimulation of releasing growth hormone, and increasing food intake and body weight.  the purpose of this study was to determine and evaluate the association between the ghrelin gene polymorphism and growth traits in ross and cobb broiler chickens. blood samples were collec...