We have investigated 13 families, each of which have one member with infantile hypercalcaemia/Williams-Beuren syndrome (IHWBS), for either a germ cell mutation of, or an association with, the calcitonin-CGRP gene. Restriction fragment mapping studies of the calcitonin-CGRP gene using five restriction enzymes (TaqI, Bg/II, PvuII, PstI, and SacI) and region specific probes failed to show any abno...

The ay-chains of fetal hemoglobin (HbF) of newborn babies are composed of about 70% and 30% A #{149} In most babies. the #{176}y value declines postnatally to 40%. but in about 20% of black SS patients from Georgia. 5 years and older. the G*y level remains high at 60%. Moreover. some 3% to 4% of black newborns have high G values of 85%. PstI digestion of DNA of one such high 0y baby and of one ...

Source and Description of the Clone: The cosmid KK5.33 was isolated from a cosmid library made from a somatic hybrid cell line (HHW141) which contained 30% of human chromosome 5 (Vector: pWE15). Polymorphism: A two-allele (Al and A2) TaqI RFLP with bands at 9.0 and 8.0 kb, and a two-allele (Bl and B2) PstI RFLP with bands at 8.0 and 6.0 kb have been described (1). Here we report on a third two-...

G6PD deficiency mutational profile and haplotype diversity using 6 RFLPs (FokI/PvuII/BspHI/PstI/BclI/NlaIII) and a (CTT)(n) microsatellite, were investigated in 70 G6PD-deficient Portuguese individuals. All but one G6PD A-(376G/202A) variants (44/45) have a single haplotype (+/+/-/+/-/+/195). G6PD Betica(376G/968C) alleles (n=10) have a single RFLP haplotype (+/-/-/+/-/+) and 4 different (CTT)(...

Four hundred and twenty-two beef cattle of two different breeds (purebred Hereford and composite multibreed) were characterized by polymerase chain reaction-restriction fragment length polymorphism, using the restriction enzymes ApaI, AvaII, HindIII, PstI, SpeI, SspI and TaqI in two regions (the D-loop and the ND-5 gene) of mitochondrial DNA. The association between molecular haplotypes and rec...

A 3,167-bp PstI fragment of genomic DNA from Pseudomonas sp. strain B13 was cloned and sequenced. The gene clcE consists of 1,059 nucleotides encoding a protein of 352 amino acids with a calculated mass of 37,769 Da which showed maleylacetate reductase activity. The protein had significant sequence similarities with the polypeptides encoded by tcbF of pP51 (59.4% identical positions), tfdF of p...