Carrier detection in families with properdin deficiency by microsatellite haplotyping.

Efficient haplotyping for families

Hapi is a novel dynamic programming algorithm for haplotyping nuclear families that outperforms contemporary family-based haplotyping algorithms. Haplotypes are useful for mapping and identifying genes which cause and contribute to the etiology of human disease, and for analyzing the products of meiosis to locate recombinations, enabling the identification of recombination hotspots and gene con...

Beta-Thalassemia Carrier Detection by NESTROFT

hydrochlorothiazide detection in urine samples by hplc-dad and experimental design dispersive l-l microextraction

hydrochlorothiazide (hct) is a diuretic agent which is shown to be effective in the treatment of hypertension. literature reports have demonstrated that urinary excretion data may be used to assess the bioavailability of various formulations containing this thiazide. also hct consumption by the athletes is one of the drugs which should be regulated by world anti-doping agency (wada), because of...

Carrier detection of phenylketonuria in Iranian families by variable number tandem-repeat polymorphism analysis.

This study of Iranian families assessed the usefulness of carrier detection of phenylketonuria by variable number tandem-repeat (VNTR) polymorphism analysis. We studied 171 people (45 unrelated PKU subjects, and their parents and unaffected siblings). Of 342 chromosomes (131 non-PKU and 211 PKU), 5 VNTR alleles were identified. This VNTR system would yield a polymorphism information content of ...

Carrier detection of Hunter syndrome (MPS II) by biochemical and DNA techniques in families at risk.

DNA based and biochemical diagnosis of MPS II was performed on 13 unrelated families using Southern blotting. The 35S-sulphate accumulation in cultured fibroblasts was investigated and the iduronate-2-sulphatase (IDS) activity in the serum determined. Sixteen patients and 36 females at risk were screened for structural aberrations and by RFLP analysis using the intragenic probe pc2S15 and probe...