the κ-casein protein plays a fundamental role in milk production and its composition synthesis in the mammary gland. this protein has an important role in the formation, stabilization, and aggregation of the casein micelles. in this study, we investigated the genetic variability at the exon 4 of the κ-casein gene (also known as csn3) using pcr-sscp analysis and dna sequencing. then a protein se...

The current report presents a case of de novo acute myeloid leukemia (AML) in a 32-year-old male. Cytogenetic analysis showed that the karyotype of the bone marrow cells was as follows: 46,XY,t(11;22)(q23;q11.2)[13]/46,X,-Y,+10,t(11;22)(q23;q11.2)[7]/47,XY,+10,t(11;22)(q23;q11.2)[1]/46,XY[1]. Fluorescence in situ hybridization analysis using a mixed lineage leukemia (MLL)-specific probe showed ...

To identify mutations in the retinoschisin (RS1) gene in families with X-linked retinoschisis (XLRS). Twenty families with XLRS were enrolled in this study. All six coding exons and adjacent intronic regions of RS1 were amplified by polymerase chain reaction (PCR). The nucleotide sequences of the amplicons were determined by Sanger sequencing. Ten...

Among the CD1 proteins that present lipid antigens to T cells, CD1d is the only one that stimulates a population of T cells with an invariant T-cell receptor known as NKT cells. Sequencing of a 722 nucleotide gap in the dog (Canis lupus familiaris) genome revealed that the canine CD1D gene lacks a sequence homologous to exon 2 of human CD1D, coding for the start codon and signal peptide. Also, ...

Objective: Diacylglycerol acyltransferase 1 is a microsomal enzyme that catalyzes the final step of triglyceride synthesis. The objective of this project is to check out the polymorphism at the exon 8 region of DGAT1 gene using PCR-SSCP technique in Iranian water buffaloes (Bubalus bubalis). Recent activities have shown that a significant association between lysine at amino acid positi...

The human HPRT gene contains spans approximately 42,000 base pairs in genomic DNA, has a mRNA of approximately 900 bases and a protein coding sequence of 657 bases (initiation codon AUG to termination codon UAA). This coding sequence is distributed into 9 exons ranging from 18 (exon 5) to 184 (exon 3) base pairs. Intron sizes range from 170 (intron 7) to 13,075 (intron 1) base pairs. In a datab...

to the editor: Patients with lung cancer who respond to gefitinib have been reported to have somatic mutations consisting of deletions in exon 19 and the L858R mutation in exon 21 of the epidermal growth factor receptor ( EGFR ) gene. 1 In addition, a second mutation (T790M) in exon 20 is also associated with acquired resistance to gefitinib in initially gefitinib-sensitive patients. 2,3 We des...

X‑linked hypophosphatemic rickets (XLHR; OMIM 307800) is an X‑linked dominant disorder caused by mutations in the phosphate‑regulating neutral endopeptidase homolog X‑linked (PHEX) gene, which is located at Xp22.11. In the present study, two novel variants of the PHEX gene were identified in two unrelated families with XLHR by directly sequencing all 22 exon regions and intron/exon boundaries o...

fish genome contains two copies of growth hormone (gh-1 and gh-2) as a result of duplication process during evolution. the aim of this study was to distinguish gh-1 from gh-2 genes in rutilus kutum (mahi sefid) from the caspian sea using sequencing techniques and application of specific restriction enzymes for these loci. for this purpose, five fish were randomly selected and samples for dna ex...

Abstract Background: Haemophilia A (HA) is an X-linked bleeding disorder caused by the absence or reduced activity of coagulation factor VIII (FVIII). Coagulation factors are a group of related proteins that are essential for the formation of blood clots. The aim of this study was to genotype the coagulation factor VIII gene mutations using Inverse Shifting PCR (IS-PCR) in an Iranian family ...