We report on a 46-year-old black man who resided in Alabama with normal transferrin saturation, mild hyperferritinemia, chronic hepatitis C, and 3+ iron in hepatocytes and Kupffer cells. Exome sequencing revealed heterozygosity for SLC40A1 D270V (exon 7, c.809A→T), a mutation previously reported only in 1 black patient with iron overload who resided in the Republic of South Africa. The present ...

Many studies have been focused on cytogenetic and molecular genetic defects in brain tumors; therefore the role of ATM as a tumor suppressor gene in these tumors is poorly considered. In this study mutation analysis of exon 19 and 39 of ATM gene and P53 accumulation were investigated by PCR-SSCP, sequencing, and flow cytometry . Four polymorphisms including D1853N, IVS 38-8 T?C, F858L, P872T we...

Objective: Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia which is characterized by cranial, clavicular, and dental anomalies. Aberrations in the RUNX2 gene, which is considered to be responsible for CCD, were investigated in a Chinese family with CCD in this study. Methods: Genomic DNA was isolated from the blood samples of all 11 participants, including 3 patien...

The chromosomal translocation t(7;11)(p15;p15) and the resulting nucleoporin 98-homeobox A9 (NUP98-HOXA9) gene fusion is rare but recurrent genetic abnormity in acute myeloid leukemia (AML). The present study describes a case of AML plus maturation (-M2) with multilineage dyspoiesis in a 30-year-old male in whom a 46,XY,t(7;11)(p15;p15) karyotype was detected through chromosome analysis. Subseq...

Fatty acid transport protein 1 (FATP1), an integral membrane protein that facilitates long-chain fatty acid influx, is involved in the genetic network for oleic acid synthesis. The aim of this study was to examine the association of FATP1 polymorphisms with live animal meat quality traits in Chinese Qinchuan cattle. Quantitative real-time PCR analysis demonstrated that FATP1 has a broad tissue ...

Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. We report on a novel nonsense mutation that leads to exon skipping and the activation of a cryptic exon. Screening of genomic DNA from 700 German patients with CF uncovered four cases with the nonsense mutation E92X, a G-->T transversion that creates a termination codon and affect...

Cerebrotendinous Xanthomatosis (CTX), a rare lipid storage disorder, is caused by recessive loss-of-function mutations of the 27-sterol hydroxylase (CYP27A1), producing an alteration of the synthesis of bile acids, with an accumulation of cholestanol. Clinical characteristics include juvenile cataracts, diarrhea, tendon xanthomas, cognitive impairment and other neurological manifestations. Earl...

Background: The purpose of this study was to determine the profiles patients with type 2 diabetes (T2DM) and an SLC22A1 gene mutation in order evaluate effect metformin pharmacogenetics.
 Methods: To assess pharmacogenetics, a T2DM receiving investigated. Blood samples were taken from 50 diabetics Minangkabau ethnicity who met inclusion criteria, SNP genotyping blood glucose levels determi...