Source/Description: cpX12 is a 1.1 kb EcoRI single-copy genomic fragment cloned into pAT153 from a pool of 100 cosmids isolated from a human/hamster somatic cell hybrid containing only the human X chromosome (1). Polymorphism: cpX12 reveals a two-allele restriction fragment length polymorphism with bands at 0.7 kb and 1.9 kb (Al) or 2.6 kb (A2) after Southern blot analysis of human genomic DNA ...

Three different regions of the alphas1-casein gene (CSN1S1) were investigated to determine the frequencies of major alleles for null, low, intermediate and high milk protein expression in a herd of dairy goats raised in the southeastern region of Brazil. Genomic DNA samples were obtained from leukocytes of 145 dairy goats and regions of interest in the gene were amplified through Polymerase Cha...

Altered plasma levels of lipids and lipoproteins, obesity, hypertension, and diabetes are major risk factors for atherosclerotic cardiovascular disease. To identify genes that affect these traits and disorders, we looked for association between markers in candidate genes (apolipoprotein AII (apo AII), apolipoprotein AI-CIII-AIV gene cluster (apo AI-CIII-AIV), apolipoprotein E (apo E), cholester...

OBJECTIVES 1: To assess the diagnostic utility of three polymorphisms (DdeI, XmnI and TaqI) and direct sequencing in haemophilia B (HB) carrier detection in Pakistani families. 2: To compare phenotypes of HB carriers with those of healthy females. METHODS The study was conducted from March 2014 till February 2016 at Khyber Medical University Peshawar and National Institute of Blood Diseases, ...

conclusions it seems that pcr-rflp is a suitable technique for the identification of mucorales at the species level. results on the basis of the molecular and morphological data, we identified mucor plumbeus (10.83%), m. circinelloides (9.17%), lichtheimia corymbifera (9.17%), m. racemosus (5.83%), m. ramosissimus (3.33%), and l. blakesleeana (0.83%). objectives the present study was conducted ...

Background: Sickle cell anemia is relatively common in Khuzestan province located in Southwest Iran. The characteristics of sickle cell disease in Iran are apparently different from other regions some of these characteristics might be related to β-chain haplotypes. The purpose of this study was to determine the frequency of β-chain haplotypes in 50 patients with homozygous sickle cell anemia in...

Hb Hoshida (␤43Glu3 Gln). All 4 patients with abnormal peaks at the S window on HPLC (mean retention time, 0.91 min) had Hb Queens (␣1 34Leu3 Arg). All 10 patients with variant peaks were heterozygous, and they had abnormal bands within the Hb S/Hb G/Hb D area on cellulose acetate Hb electrophoresis. Hb G Coushatta has been found in Koreans, Chinese, and in some Japa-nese families (6). This var...

Familial combined hyperlipidemia (FCH) is a common genetic lipid disorder in Western societies. In a recent report (Dallinga-Thie, G.M., X.D. Bu, M. van Linde-Sibenius Trip, J.I. Rotter, A.J. Lusis, and T.W.A. de Bruin. J. Lipid Res., 1996, 36:136-147) we have studied three restriction enzyme polymorphisms: XmnI, and MspI sites 5' of the apo AI gene and SstI site in the 3' untranslated region o...