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Biomedical subjects

A Gal

Publications and source records attributed to A Gal.

At least 235 records · Page 13Linked to original sources
PubMed1986

Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease.

Norrie disease (ND), an X-linked recessive disorder, is characterized by congenital blindness followed by bulbar atrophy. We have examined a three-generation family in which ND is part of a complex X-linked syndrome with severe mental retardation, hypogonadism, growth disturbances, and increased susceptibility to infections as additional features. This syndrome is apparently due to an interstitial deletion, as evidenced by the failure of the L1.28 DNA probe (DXS7 locus, Xp11.3) to detect complementary DNA sequences on the defective X chromosome of an affected male and of several obligatory heterozygotes. Attempts to further define this deletion with other DNA probes from the proximal short arm of the X chromosome or by prometaphase chromosome analysis were unsuccessful.

Adolescent↗
PubMed1986

Norrie's disease: delineation of carriers among daughters of obligate carriers by linkage analysis.

Norrie's disease is an X-linked disorder with congenital blindness. Carriers are clinically healthy, so that they are only identifiable when they are daughters of affected males, or mothers to affected males in whose families other males have Norrie's disease. Daughters of carriers have an á priori 50 per cent risk of being carriers themselves. We have recently found close linkage between the genes for Norrie's disease and the DXS7 locus, characterised by a DNA restriction fragment length polymorphism (RFLP), L1.28. In three informative families we show that this RFLP can help to delineate carriers from those of their female relatives who are homozygous for the normal gene.

Adult↗
PubMed1985

X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome.

A large Danish pedigree segregating for X-linked retinitis pigmentosa (RPX) (Warburg and Simonsen 1968) was restudied for linkage analysis. Using two markers, i.e. the DNA base sequence polymorphism presented by the probe L1.28 defining the chromosomal segment DXS7, and the C-banding heteromorphism (Xcen) (Friedrich 1982), we were able to localize the RPX gene in Xp close to the centromere rather precisely. The gene order could be deduced by three-point linkage analysis, and the gene distances were determined by pairwise analysis using the LIPED program (Ott 1974). Together with previously published data concerning the RPX:DXS7 linkage (Bhattacharya et al. 1984) a regional gene map is constructed. Xcen-11 cM-RPX-6 cM-DXS7.

Adolescent↗
PubMed1985

A 45,X male with evidence of a translocation of Y euchromatin onto chromosome 15.

A 19-year-old male with azoospermia was found to have a 45,X karyotype with additional euchromatic material on 15p. The parents' karyotypes are normal. The cytogenetic data, the positive H-Y-typing, and the presence of Yp-specific restriction fragments detected in the proband's genome by molecular DNA probes suggest that the short arm of the Y chromosome, including part of the centromere, is translocated onto the nucleolus organizer region (NOR) of chromosome 15.

Adult↗
PubMed1985

Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome.

Norrie disease (ND) is an X-linked recessive disorder with congenital blindness (atrophia bulborum hereditaria, pseudoglioma). Six kindreds segregating for ND were studied for linkage with polymorphic markers of the human X chromosome. No recombination was observed between the ND-locus (NDP) and the DXS7 locus, the latter followed as a DNA-restriction fragment length polymorphism, detected by the recombinant DNA probe L1.28, and assigned to the region Xp11.2-Xp11.3. The maximum lod scores are zeta = 3.81 at theta = 0.00. Linkage data between NDP and the other genetic markers used in the present study are in keeping with this assignment of the mutation to the proximal Xp.

Adolescent↗
PubMed1985

X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.

A large kindred with the X-linked dominant form of peroneal muscular atrophy (Charcot-Marie-Tooth disease) was analyzed for individual variation in the length of DNA fragments after restriction endonuclease digestion. A systematic search was performed for linkage with a series of cloned single-copy DNA sequences of known regional assignment to the human X chromosome. Close linkage was found with the pDP34 probe (DXYS1 locus, Xq13-q21), suggesting that the gene responsible for the disease is located on the proximal long arm of the X chromosome.

Charcot-Marie-Tooth Disease↗
PubMed1985

Structural basis for restriction-site polymorphism at the albumin locus in inbred strains of rats.

Two types of variant EcoRI restriction enzyme patterns of albumin-gene DNA fragments are found in different inbred strains of rats and reflect allelic polymorphism. The structural basis of the two allelic forms has been analyzed by mapping the EcoRI fragments using cloned albumin cDNA probes corresponding to the 5' or 3' end of the rat albumin mRNA and different genomic subclones. Additional restriction fragment length polymorphism has been detected using the restriction endonucleases HindIII and MspI. The results suggest that the two allelic variants differ from each other by multiple cleavage-site variations (base-pair substitutions) and by an insertion or deletion of DNA sequences. An extensive DNA sequence variation appears to exist between the two forms of the albumin gene; we have estimated that as much as 4% of the nucleotides in this region varied between the two alleles. All of this genetic variation is found in the intervening sequences of the gene and has no phenotypic manifestation.

Alleles↗
PubMed1985

Organization of the albumin and alpha-fetoprotein genes in fetal and adult rat tissues, and rat hepatomas.

We compared the organization of the albumin and alpha-fetoprotein (AFP) genes in chromosomal DNA from different fetal and adult rat tissues as well as from two rat hepatomas. These two genes are expressed at widely different levels in the tissues and hepatomas analysed. Southern blots of DNAs digested with the restriction endonucleases EcoRI, HindIII or MspI were hybridized to albumin and AFP complementary DNA (cDNA) and genomic probes. No significant difference was observed in the hybridization patterns obtained for the DNAs from the different tissues, except for some interstrain variation between the chromosomal DNAs isolated from Sprague-Dawley and Buffalo rats, which was due to allelic polymorphism. We cannot rule out the possibility of changes in chromosomal gene organization which would result either in small alterations of restriction fragment size or in translocations of large blocks of DNA containing whole sets of restriction enzyme fragments within the chromosome; however, our results indicate that the gross organization of the albumin and AFP genes remains constant throughout the regulatory processes involved in the tissue- and time-specific transcription of these genes.

Albumins↗
PubMed1984

Reconstitution of beta-adrenergic receptor with components of adenylate cyclase.

Beta 1-Adrenergic receptor proteins were extracted from turkey erythrocyte membranes with lauroyl sucrose and digitonin and purified by affinity chromatography on a column of alprenolol agarose Affi-gel 10 or 15. The 5000-fold purified receptor is able to couple functionally with the stimulatory GTP-binding protein (GS) from either turkey or duck erythrocytes. Functional coupling was achieved by three different approaches. (i) Purified beta-receptor polypeptides were coupled in phospholipid (asolectin) vesicles with GS from a crude cholate or lauroyl sucrose extract of turkey erythrocyte membranes. The detergent was removed and vesicles were formed with SM-2 beads. (ii) Purified beta-receptor was reconstituted with pure, homogeneous GS in asolectin vesicles. (iii) Purified beta-receptors were either coupled in asolectin vesicles with a mixture of pure, homogeneous Gpp(NH)p-activated GS and a lauroyl sucrose extract of turkey erythrocyte membranes, or with pure, homogeneous Gpp(NH)p-activated GS alone. The decay of activity was measured on addition of GTP and hormone. In (ii) and (iii), the detergent was removed and vesicles were formed by gel filtration on Sephadex G-50 columns. In each of the three different experimental conditions, the beta-receptor was activated with l-isoproterenol and activation was blocked with d,l-propranolol. Activated GS were measured separately by means of their capacity to activate a crude Lubrol PX-solubilized adenylate cyclase preparation from rabbit myocardial membrane. The kinetics of GS activation by purified beta-receptors occupied by l-isoproterenol was first order and activation was linearly dependent on receptor concentration.(ABSTRACT TRUNCATED AT 250 WORDS)

Adenylyl Cyclases↗
PubMed1984

Selective detection of rat and mouse specific albumin and alpha-fetoprotein mRNA molecules under highly stringent hybridization conditions.

The molecular analysis of some important interactions observed between the parental genomes in interspecific cell hybrids requires the availability of highly specific hybridization assays to selectively quantitate mRNA sequences coding for the same protein but transcribed from the two different genomes. Specific hybridization techniques which should permit the selective detection of rat and mouse albumin and alpha-fetoprotein (AFP) mRNA molecules in a mixture of the two types of mRNAs are presented here. The high degree of homology existing between the AFP mRNA sequences coding for mouse and rat AFP, and, presumably, albumin, results in extensive cross-hybridization with the cDNA probes under standard hybridization conditions. No size differences could be detected between the two types of mRNA molecules from the two species. A Tm difference of 7 degrees C between the intra- and interspecific mRNA:rat cDNA hybrids allowed the establishment of highly stringent solution hybridization conditions necessary to measure separately the contents of rat albumin and AFP mRNAs. Mouse albumin and AFP cDNA clones were then isolated from mouse liver and yolk sac cDNA libraries, and used to show the usefulness of highly stringent washing conditions to discriminate between rat and mouse albumin and AFP mRNA molecules in conventional "Northern blotting" techniques. In combination with the solution hybridization assay, these filter hybridization techniques can be used to specifically quantitate the content of rat and mouse albumin and AFP mRNA molecules in interspecific cell hybrids.

Albumins↗
PubMed1984

Structural variants of the alpha-fetoprotein gene in different inbred strains of rat.

Two structural variants of the rat alpha-fetoprotein (AFP) gene have been detected in different inbred strains of rats by EcoRI or HindIII restriction enzyme cleavage of cellular DNA, agarose gel electrophoresis and Southern blot hybridization using 32P-labeled cloned rat AFP cDNA probes. The type I AFP gene variant is characteristic of the Sprague-Dawley strain, and type II is found in Buffalo rats. These variants appear to represent two different allelic forms of the rat AFP gene since they are inherited in a normal Mendelian fashion when Sprague-Dawley and Buffalo rats are crossed. The mapping results suggest that the two allelic variants differ from each other by multiple cleavage site variations (base pair substitutions) and by an insertion or deletion of DNA sequences. An extensive sequence variation appears to exist between the two forms of the rat AFP gene; we have estimated that as much as 2.7% of the nucleotides in this region vary between the two alleles.

Animals↗