objectives the cause of rheumatoid arthritis (ra) as a chronic inflammatory autoimmune disease is still unknown. it appears that both genetic and environmental factors play a role in its pathogenesis. recent studies reveal that in addition to the cns, immune cells synthesis neurotransmitters so that these catecholamines can regulate immune functions. the aim of this study is to evaluate the dop...

BACKGROUND Mutations in the parkin gene (PRKN) cause autosomal recessive early-onset Parkinson disease (EOPD). OBJECTIVE To investigate the presence of mutations in the PRKN gene in a white family with EOPD and the genotype-phenotype correlations. DESIGN Twenty members belonging to 3 generations of the EOPD family with 4 affected subjects underwent genetic analysis. Direct genomic DNA seque...

Hemoglobin (Hb) G-Chinese [α30 (B11) Glu↷Gln], also known as Hb G-Honolulu, Hb G-Hongkong or Hb G-Singapore, was first identified in a Chinese woman in Singapore, and was subsequently observed in several Chinese families. This Hb variant results from a GAG↷CAG mutation at codon 30 of the α-globin gene. The aim of the present study was to identify the Hb G-Chinese mutation in three Cantonese ind...

The calreticulin gene has nine exons and most of the frequent mutations screened observed in 9th exon myeloproliferative neoplasm patients, especially essential thrombocythemia primary myelofibrosis. In current study, an uncommon mutation was a 51 y old man with polycythemia vera phenotype. Somatic novel homozygous affect 9 gene. These recent genetic variations were not reported previous studie...

Many abnormal α-chain hemoglobins (Hbs) are caused by single nucleotide mutations in α1- or α2-goblin genes. One of these Hbs is Hb Q-Iran which is resulted from a point mutation at codon 75 of the α1-globin gene (Asp→His). The identification of Hb Q-Iran was observed in two members of a family from the Central Province of Iran. In this study, Globin chain analysis on high performance liquid ch...

A previously undefined transcript with significant homology to the pseudo-alpha2 region of the alpha-globin locus on human chromosome 16 was detected as part of an effort to better define the transcriptional profiles of human reticulocytes. Cloning and sequencing of that transcript (GenBank AY698022; named mu-globin) revealed an insert with a 423-nucleotide open reading frame. BLASTP and Clusta...

OBJECTIVES To analyze the frequency of β(S)-globin haplotypes and alpha-thalassemia, and their influence on clinical manifestations and the hematological profile of children with sickle cell anemia. METHOD The frequency of β(S)-globin haplotypes and alpha-thalassemia and any association with clinical and laboratorial manifestations were determined in 117 sickle cell anemia children aged 3-71 ...

background & objectives: the researcher clarified that β/globin gene cluster haplotypes in patients with sickle cell anemia provide useful population data as predictors of the disease severity, gene flow, and the origins of sickle cell mutation in this region. materials and methods: a total of 150 subjects was investigated in two different groups for five polymorphism restriction sites of t...

Alpha Thalassemia is one of the most prevalent disorders worldwide with a [T1] high carrier rate in Mazandaran province (north of Iran). Carriers of --MED double gene deletion are at risk of having a child with hemoglobin  haemoglobin[T2]  H (HbH) disease, if they marry a silent carrier. Co-inheritance of αααAnti3.7 triplication that cannot be detected using hem...

Mutations in the KRAS (Kirsten rat sarcoma viral oncogene homolog gene) and BRAF (v‐Raf murine B1) gene play a significant role primary resistance to colorectal cancer therapy. Around 85‐90% of mutations occur exon 2 (codon 12 13), whereas approximately 96% 15 codon 600 (V600E). This study aimed determine prevalence mutation characteristics genes patients Bali. The DNA was isolated from 44 form...