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The characteristic absolute efficiency response curves of a high purity germanium detector (HPGe) for different counting geometries have been established in the energy range 50–1500 keV by measuring the absolute efficiencies using both mono-energetic and multi-gamma emitting radionuclide point calibrated sources supplied by IAEA. Several fitting functions proposed in the literature were assessed for interpolation within the intermediate energy range of interest. The values of the function parameters have been determined by using the linear least square methods. The problems associated with the measurements of experimental efficiency data at small source–detector distances and the importance of the correlation matrix in the estimation of precise uncertainties have been shown. It was found that the inclusion of correlation matrices in the propagation of error formulae plays a significant role up to 450 keV gamma-ray energy and results in a drastic reduction of errors associated with the predicted efficiencies. The discrepancy at closer counting geometries in the absence of true gamma-gamma coincidence corrections is found to reach to about 30%. [ABSTRACT FROM AUTHOR]

A new syndromic form of X-linked mental retardation associated to obesity, MRXS7, has been localised to Xp11.3-Xq23 in a large Pakistani family. The ten affected males show clinical manifestations of mental retardation, obesity and hypogonadism. The family was genotyped by a set of microsatellite markers spaced at approximately 10 cM intervals on the X chromosome. Linkage to five adjacent microsatellite markers, mapping in the pericentromeric area, was established and a maximum two-point lod score of 3.86 was reached at zero recombination with marker DXS1106. Reduced recombination events around the centromere prevented precise mapping of the gene. [ABSTRACT FROM AUTHOR]

Electrophoretic analysis of loci controlling a variety of enzymes has been applied to samples of the 'Padstow mussel' and typical Mytilus edulis L. living strictly sympatrically at Rock, Cornwall, England, in order to resolve the disputed status of the 'Padstow mussel'. Small samples indicated similar monomorphic states at the αGPDH, TO, MDH-2 loci and weak polymorphism at the 6 PGD locus in both types of mussel. The MDH-1 locus may be weakly polymorphic in the 'Padstow mussel' and monomorphic in M. edulis. Large samples assayed for AP, LAP, PGM, and PHI produced data showing very large and highly significant differences in allele frequencies at three of these loci between the two groups of mussels separated on anatomical characters. At the LAP locus, significant deficiencies of heterozygotes were observed in both groups of mussels. A small percentage of mussels from Rock are difficult to assign with certainty to one or other group on anatomical and morphological criteria, but the genetic evidence indicates that most, if not all, such specimens are M. edulis. These genetic differences make it highly improbable that any significant degree of genetic exchange occurs between the two groups in nature and, taken together with the evidence of genetic resemblance of the Padstow mussel to M. galloprovincialis from Venice and that of Rock M. edulis to M. edulis, from the Gower peninsula of Wales we conclude that the 'Padstow mussel' is indeed M. galloprovincialis. [ABSTRACT FROM AUTHOR]

The osteochondrodysplasias are a genetically heterogeneous group of disorders affecting skeletal development, linear growth and the maintenance of cartilage and bone. We have studied a large inbred Pakistani family with a distinct form of recessively inherited spondyloepimetaphyseal dysplasia (SEMD) and mapped a gene associated with this dwarfing condition to chromosome 10q23?24, a region syntenic with the locus for the brachymorphic mutation on mouse chromosome 19. We identified two orthologous genes, ATPSK2 and Atpsk2, encoding novel ATP sulfurylase/APS kinase orthologues in the respective regions of the human and mouse genomes. We characterized a nonsense mutation in ATPSK2 in the SEMD family and a missense mutation in the region of Atpsk2 encoding the APS kinase activity in the brachymorphic mouse. ATP sulfurylase/APS kinase catalyses the metabolic activation of inorganic sulfate to PAPS, the universal donor for post-translational protein sulfation in all cell types. The cartilage-specificity of the human and mouse phenotypes provides further evidence of the critical role of sulfate activation in the maturation of cartilage extracellular matrix molecules and the effect of defects in this process on the architecture of cartilage and skeletogenesis. [ABSTRACT FROM AUTHOR]

A Pakistani kindred comprising seven generations and 36 members with the split-hand/split-foot anomaly is described. The full expression of the trait, monodactylous or split hand and split foot, mainly of the lobster-claw type, was present in 33 males and 3 females. Other females showed a distinctly milder expression of the trait, usually in the form of partial syndactyly, metacarpal and phalangeal hypoplasia, and malformation. The distribution of the affected members in the pedigree is compatible with X-chromosomal inheritance. Hemizygous males and presumably homozygous females exhibit the typical split-hand/split-foot anomaly, whereas only a part of the obligatory heterozygous females show the milder expression. There were no associated anomalies, such as ectodermal dysplasia, cleft lip/palate, macular degeneration, malformations of the long bones or internal organs, and overt mental retardation. [ABSTRACT FROM AUTHOR]

A large inbred kindred from Pakistan in which an isolated type of split-hand/split-foot anomaly is transmitted as an X-chromosomal trait has previously been described. An X/autosomal translocation and an X-chromosomal rearrangement have been excluded by cytogenetic studies. In order to map the gene responsible for this disorder, linkage analysis has been performed by using 14 highly polymorphic DNA markers distributed over the whole X chromosome. Two-point linkage analysis between the disease locus and X-chromosomal marker loci gives maximal lod scores at θ= 0.00 with the loci DXS294 ( Z= 5.13) and HPRT ( Z= 4.43), respectively, suggesting that the gene for the X-chromosomal split-hand/split-foot anomaly is localized at Xq26-q26.1. [ABSTRACT FROM AUTHOR]

In order to determine the incidence of persistence of high intestinal lactase activity (PLA) in a Pakistani human population, 53 probands belonging to the Punjabi ethnic group were examined using a lactose tolerance test. The incidence of PLA in the sample was found to be 55%, which has been compared with the incidence in other ethnic groups racially or geographically related to the Pakistani population. Various possible explanations for the fairly high incidence of PLA in the Punjabi ethnic group have been discussed. [ABSTRACT FROM AUTHOR]