It has recently been postulated that thrombophilia may have a role in the aetiology of Perthes' disease. The published reports, however, remain conflicting. In this study a retrospective analysis of the coagulation parameters was made in 47 patients with Perthes' disease and the results compared with the clinical data. Five patients with Factor V Leiden mutation were found (10.6%) and surprisin...

BACKGROUND Neuronal ceroid lipofuscinosis (NCL), a fatal neurodegenerative disease, has been diagnosed in young adult Australian Cattle Dogs. OBJECTIVE Characterize the Australian Cattle Dog form of NCL and determine its molecular genetic cause. ANIMALS Tissues from 4 Australian Cattle Dogs with NCL-like signs and buccal swabs from both parents of a fifth affected breed member. Archived DNA...

CYP2E1 is responsible for the metabolic activation of nitrosamines believed to be involved in the pathogenesis of various tumors. Nasopharyngeal carcinoma (NPC) is a tumor thought to be linked to nitrosamine exposure. To investigate the possible role of CYP2E1 genetic polymorphisms in the etiology of this tumor, we investigated 50 histologically confirmed NPC cases from Taiwan and 50 controls m...

A detailed embryological analysis has been undertaken on embryos carrying the c4FR60Hd-, c5FR60Hg- or c2YPSj-albino deletions of mouse chromosome 7. Embryos homozygous for the c4FR60Hd deletion are abnormal at day 7.5 of gestation. The extraembryonic ectoderm does not develop, and primitive-streak formation and mesoderm production do not occur. In contrast, extensive development of the extraemb...

We demonstrated earlier that individuals homozygous for conserved major histocompatibility complex (MHC)-extended haplotypes have low natural killer (NK) activity as measured by cytolysis of the K562 tumor cell lines. In the present study, we investigated the segregation and MHC linkage of NK activity in families in which MHC haplotypes of human histocompatibility leukocyte antigens (HLA)-A, -C...

Background Rhizomelic chondrodysplasia punctata (RCDP) type 1 is among of the rare autosomal recessive peroxisome biogenesis disorders caused by mutations in the PEX7 gene. RCDP patients with the classic form of RCDP1 do not live more than 10- year. Materials and Methods In the present study, a two-year-old girl with skeletal abnormalities and dysmorphic facial appearance is reported to be suf...

Background: &beta-thalassemia is the most common monogenic disorder in human. The (CT) polymorphism at -158 upstream region of the &gammaG-globin gene and pharmacological factors such as hydroxyurea have been reported to influence &gamma-globin gene expression and the severity of clinical symptoms of &beta-thalassemia. Methods: In the present study, 51 &beta-thalassemia intermediate patients w...

BACKGROUND Congenital adrenal hyperplasia (CAH) due 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder. It is caused by defects in the CYP21A2 gene. OBJECTIVE Our aim was to determine the frequency of common gene mutations and to evaluate genotype-phenotype correlations in Turkish 21-OHD patients. METHODS Molecular analysis of the CYP21A2 gene was performed for the ...

EDITOR—Myotonic dystrophy (DM) is the most common form of inherited neuromuscular disease in adults and is characterised by progressive muscle wasting and myotonia. The mutation responsible for DM has been identified as the amplification of a polymorphic (CTG)n repeat in the 3' untranslated region of a gene encoding a serine/threonine kinase (DMPK). The DM trinucleotide repeat is highly polymor...

EDITOR—Myotonic dystrophy (DM) is the most common form of inherited neuromuscular disease in adults and is characterised by progressive muscle wasting and myotonia. The mutation responsible for DM has been identified as the amplification of a polymorphic (CTG)n repeat in the 3' untranslated region of a gene encoding a serine/threonine kinase (DMPK). The DM trinucleotide repeat is highly polymor...