bluuebunny/crossref_metadata_2025_split huggingface dataset:
The major phenobarbital‐inducible cytochrome P‐450 gene subfamily (P450IIB) mapped to the long arm of human chromosome 19
Authors: SANTISTEBAN I. , POVEY S. , SHEPHARD E. A. , PHILLIPS I. R. 
Published: September 2007

SummaryWe have recently isolated a cloned cDNA that codes for a human orthologue of the major phenobarbital‐inducible cytochrome P450IIB subfamily of rodents. The cloned human cDNA was used to analyse, by Southern blot hybridization, DNA extracted from a panel of 9 independent human‐rodent somatic cell hybrids. The results indicate that all members of the P450IIB gene subfamily of man are located on chromosome 19. Evidence from hybrids containing different regions of human chromosome 19 localizes this cytochrome P‐450 gene subfamily further to the long arm of chromosome 19 in the region cen‐q13.3. We propose the designation CYP2B for this locus.
Genetic and morphometric variances in three human populations
Authors: SCHMITT L. H. , HARRISON G. A. , HIORNS R. W. 
Published: September 2007

SummaryData from three human populations were used to investigate the putative relationship between genetic and morphological variances. There was no evidence to support the hypothesis that individuals heterozygous at a small number of marker loci are more often near the mean for anthropometric characters than are homozygotes. In one population (Otmoor), apparent support for the hypothesis was due to the confounding factors of correlations between anthropometric traits and population subdivision. It is unlikely that such relationships can be detected by intrapopulation comparisons because of the low association between measured and total heterozygosity.
Bkm sequences from the human X chromosome contain large clusters of GATA/GACA repeats
Authors: ERICKSON R. P. , ROSS C. E. , GORSKI J. L. , STALVEY J. R. D. , DRUMM M. M. 
Published: September 2007

SummaryIn order to determine whether the regional localizations of Bkm repeats detected on the human X chromosome consisted of typical GATA/GACA repeats, clones were isolated, mapped, and sequenced. Nine Bkm‐hybridizing clones from Kunkel's fluorescent‐activated, cell‐sorted X‐chromosome library were all unique. Five were mapped in detail with restriction enzymes and the Bkm‐hybridizing segments were localized. Confirmation of X chromosomal homology was obtained for 2 of the clones and Bkm segments from these 2 clones were sequenced. Seventeen contiguous GATA repeats were found in each clone and the overall repeat arrangement showed relatively few differences from previously sequenced Bkm sequences. These are the first sequences of human Bkm repeats. The results, when compared with previously published results, suggest that there may be significant differences between the organization of Bkm repeats on the human X and on the human Y chromosome.
Cloning and chromosomal mapping of human cytochrome b5 reductase (DIA1)
Authors: BULL P. C. , SHEPHARD E. A. , POVEY S. , SANTISTEBAN I. , PHILLIPS I. R. 
Published: September 2007

SummaryWe have isolated a cDNA clone that codes for human cytochrome b5 reductase. The cDNA was used to analyse, by Southern‐blot hybridization, DNA isolated from a panel of 11 independent human‐rodent somatic cell hybrids. The results indicate that cytochrome b5 reductase is encoded by a single gene located on human chromosome 22.
The analysis of close linkage in large families
Authors: EDWARDS J. H. 
Published: September 2007

SummaryIn large families, if two closely linked loci both have rare alleles and several distant members are ascertained through one having rare alleles at both loci, simple estimates of their recombination fraction are possible. This information is free from errors due to both reduced penetrance and erratic paternity. Simple estimates based on counting will often have high efficiency and limited bias. Some problems of linkage analysis between loci with codominant expression in complete three generation families are also considered. The omission of individuals of uncertain genotype at the test locus will be more efficient than their inclusion.
Cytosolic aldehyde dehydrogenase (ALDH1) variants found in alcohol flushers
Authors: Yoshida A. , Davé V. , Ward R. J. , Peters T. J. 
Published: September 2007

SummaryAlthough mitochondrial aldehyde dehydrogenase (ALDH2) has been thought to play a major role in acetaldehyde detoxification, and the high incidence of ‘alcohol flushing’ among Orientals is attributed to the inherited deficiency of ALDH2, the role of cytosolic aldehyde dehydrogenase (ALDH1) cannot be ignored. On the premise that alcohol flushing in Caucasians could be related to ALDH1 abnormalities, we examined the enzyme properties and electrophoretic mobilities of ALDH1 partially purified from red blood cells of nine unrelated alcohol flushers. One exhibited very low activity (10–20% of control level), and another exhibited moderately low activity (60%) and altered kinetic properties. The electrophoretic mobilities of these two samples were also distinguishable from the control samples. Immunological quantitation indicated that the amounts of ALDH1 protein in these two samples were not reduced in parallel with their enzyme deficiency. In the first case, the two characteristics, i.e. very low enzyme activity and alcohol flushing, were inherited by her daughter.
Assignment of the coding sequence for carcinoembryonic antigen (CEA) and normal cross‐reacting antigen (NCA) to human chromosome 19 q 13.
Authors: Willcocks T.C. , Craig S.P. , Craig I. W. 
Published: September 2007

SUMMARYWe have isolated and localized to chromosome 19 a gemomic sequence for carcinoembryonic antigen (CEA). A human cosmide bank was screened with two degenerate oligonucleotide sequences corresponding to N‐terminal segments of the protein. Seqence analysis of a selected cosmid has confirmed the presence of an exon representing the 107 amino acids of the first protein domain (plus part of a putative leader sequence). In situ hybridization of both the exon DNA sequence and a more extensive genomic fragment to replication banded chromosomes has indicated that CEA and strongly cross‐hybridizing members of the CEA family can be assigned to 19q13. This conclusion is supported by studies with a somatic cell hybrid cell‐line.
Localization of the Surfeit gene cluster containing the ribosomal protein gene L7a to chromosome bands 9q33‐34.
Authors: YON J. , PALMER R. W. , SHEER D. , FRIED M. 
Published: September 2007

SUMMARYThe Surfeit gene cluster which contains at least four very tightly spaced unrealted genes, of which encodes the ribosomal protein L7a, has been localized by an analysis of somatic cell hybrids to the long arm of chromosome 9. By the use of in situ hybridization the Surfeit locus has been further mapped to 9q3‐34.
An investigation of the properties and possible clinical significance of the lysosomal α‐glucosidase GAA* 2 allele
Authors: SWALLOW D. M. , KROOS M. , PLOEG A. T. Van der , GRIFFITHS B. , ISLAM I. , MARENAH C. B. , REUSER A. J. J. 
Published: September 2007

SUMMARYProperties of the acid α‐glucosidase, GAA2, the product of the GAA*2 allele have been compared with those of the common allele product GAA1. GAA2 has an altered affinity for glycogen but resembles GAA1 in its affinity for low molecular weight substrates, and also in its processing, as judged by immunoblot analysis of the denatured polypeptides. Starch gel electrophoretic analysis of fibroblasts from 15 patients with late onset glycogen storage disease type II (GSDII) failed to reveal either homozygotes or heterozygotes for the GAA*2 allele (GAA2‐2 or GAA2‐0) providing evidence that neither of these genotypes lead to late onset GSDII despite the impaired activity of the enzyme towards glycogen.
An investigation of the possible influence of neutral α‐glucosidases on the clinical heterogeneity of glycogenosis type II
Authors: PLOEG A. T. Van der , KROOS M. A. , SWALLOW D. M. , REUSER A. J. J. 
Published: September 2007

SUMMARYThe lysosomal storage disorder glycogenosis type II, caused by a deficiency of lysosomal α‐glucosidase, is very heterogeneous in its clinical presentation. It has been suggested that this heterogeneity may be due to differential expression of neutral α‐glucosidases. We have therefore analysed the activity of the major neutral α‐glucosidases in cultured fibroblasts or muscle cells from 26 patients with glycogenosis type II. The results indicate that there is no correlation between the expression of neutral α‐glucosidase isoenzymes and the clinical phenotype of this disease.
Isolation of a cDNA clone and localization of the human glutathione S‐transferase 3 genes to chromosome bands 11q13 and 12q13‐14
Authors: BOARD P. G. , WEBB G. C. , COGGAN M. 
Published: September 2007

SUMMARYA partial cDNA clone of the glutathione S‐transferase 3 gene (GST3) was obtained by screening a Agtll human lung cDNA library with antiserum to human lung GST3. The sequence of this cDNA showed two base differences from the coding sequence of a GST3 cDNA isolated from a human placental cDNA library.Hybridization of the cloned GST3 cDNA to human chromosomes resulted in a primary peak of grains over band 11q13, a localization predicted by prior experiments. An unexpected strong secondary peak of grains was obtained over bands 12q13 and 12q14, indicating that there is a GST3‐like gene on the long arm of chromosome 12 in man.
Regional localization of the sperm‐specific lactate dehydrogenase, LDHC, gene on human chromosome 11
Authors: EDWARDS Y. , WEST L. , HEYNINGEN V. VAN , COWELL J. , GOLDBERG E. 
Published: September 2007

SUMMARYA cDNA clone complementary to the mRNA encoding the sperm‐specific lactate dehydrogenase, LDHC, has been used to map the LDHC locus to the short arm of human chromosome 11. In situ hybridization data and analysis of mouse/human somatic cell hybrids carrying deletions of human chromosome 11 suggest that the gene is localized at p15.3‐p15.5 close to the LDHA gene.
How much difference does chromosome banding make?: Adjustments in prevalence and mutation rates of human structural cytogenetic abnormalities
Authors: HOOK E. B. , HEALY N. P. , WILLEY A. M. 
Published: September 2007

SUMMARYA collaborative analysis was undertaken of 226 karyotypes with structural chromosome abnormalities diagnosed primarily with low level banding resolution, about 300 to 400 bands per karyotype. We estimate that in this series, use of low level banding was required to detect about 78% of pericentric inversions, about 51% of reciprocal translocations, about 47% of all balanced translocations, about 35% of unbalanced rearrangements other than rings, Robertsonian translocations and extra structurally abnormal chromosomes, about 11% of all unbalanced rearrangements, and about 35% of all structural abnormalities. Adjustment factors derived from these figures were applied to prevalence and mutation rates of structural mutation rates derived from published large scale studies of livebirths. Had low level banding been used in these earlier studies we estimate that the rate of all structural abnormalities would have been about 60% higher than those reported (3.8 per 1000 vs. 2.3 per 1000 in the original studies). The increase is much higher for balanced abnormalities, 75% (3.4 per 1000 vs. 1.9 per lOOO), than for unbalanced abnormalities, 5% (0.42 per 1000 vs. 0.405 per 1000). The increase in mutation rates for de novo cytogenetic abnormalities was similarly, considerably higher after such adjustment: the rates per 100000 gametes increased from 18.0 to 35.0 for balanced rearrangements, from 8.2 to 10.1 for unbalanced abnormalities and from 26.2 to 45.1 for all abnormalities. These estimates illustrate the difference even low level banding makes to detection of structural cytogenetic abnormalities and why contemporary studies using such methods cannot be compared with earlier large scale population studies or livebirths without some type of adjustment such as those suggested here. Comparisons should be done at a constant level of diagnostic resolution, e.g. limited to lesions detectable without banding.
MAP, an expert system for multiple pairwise linkage analysis
Authors: MORTON N. E. , ANDREWS V. 
Published: September 2007

SUMMARYThe logic of a program for multiple pairwise linkage analysis under interference is set forth, including a seriation algorithm to obtain a trial order, a mapping bootstrap to improve the trial order, and three procedures for quality control to detect mistyping. This approach is compared with multipoint analysis under null interference, which substantially overestimates map length and cannot incorporate a variety of data.
Testing for non‐randomness of events in sparse data situations
Authors: TARONE R. E. 
Published: September 2007

SUMMARYIn experiments involving cytogenetic assays or mutation assays it is often of interest to determine if there are hot spots for certain events, that is, to determine if the events occur more often at certain sites than would be expected under the assumption of randomness. In examining chromosome aberrations using banded chromosome preparations, for example, it may be of interest to determine if a particular type of aberration occurs more often in a particular band than would be expected given the relative length of the band. In a mutation assay it may be of interest to determine if a mutation occurs more often at a particular nucleotide in a given sequence than would be expected given the length of the sequence in question. Such experiments typically result in data following a multinomial distribution with a large number of classes and relatively few observations. For such data, De Braekeleer & Smith (1988) have suggested analysis of the frequencies in individual classes using an exact binomial test. Two cautions are noted for application of the binomial analysis in the usual situation in which the locations of potential hot spots are not specified beforehand.
Expression of the myeloid differentiation antigen CD33 depends on the presence of human chromosome 19 in human‐mouse hybrids
Authors: ADRIAANSEN H. J. , VAN KESSEL A. H. M. GEURTS , BRESSER J. H. F. M. WIJDENES‐DE , VAN DRUNEN‐SCHOENMAKER E. , VAN DONGEN J. J. M. 
Published: September 2007

SUMMARYInterlineage human‐mouse hybrids were constructed by fusion of human acute undifferentiated leukaemia cells with the mouse thymoma cell line BW5147. Some of the hybrids expressed the human differentiation antigens CD4, CD7, CD33, and CD71 (transferrin receptor). Chromosome analysis revealed that the expression of the myeloid antigen CD33 is dependent on the presence of human chromosome 19, which is in agreement with the location of CD33‐coding sequences on chromosome 19, as recently reported by Peiper et al. (1987). Furthermore, these hybrids allowed us to confirm the assignment of the CD4 antigen, the CD7 antigen, and the CD71 antigen to human chromosomes 12, 17 and 3, respectively.
Regional localization of polymorphic markers on chromosome 10 by physical and genetic mapping
Authors: MATHEW C. G. P. , WAKELING W. , JONES E. , EASTON D. , FISHER R. , STRONG C. , SMITH B. , CHIN K. , LITTLE P. , NAKAMURA Y. , SHOWS T. B. , JONES C. , GOODFELLOW P. J. , POVEY S. , PONDER B. A. J. 
Published: September 2007

SUMMARYThe human vimentin gene and a random DNA segment (D10S39) were mapped to the short arm of human chromosome 10 by linkage analysis. A panel of somatic cell hybrids and monosomy cell‐lines, which divide chromosome 10 into seven regions, was used to localize 10 polymorphic markers on this chromosome. The physical map locations obtained correlate well with linkage maps of chromosome 10. Two markers which have been shown to be closely linked to the gene for multiple endocrine neoplasia type 2A map distal to a translocation breakpoint in band 10qll.2
The polymorphic human DNA sequence D8S8 assigned to 8ql3‐21.1, close to the carbonic anhydrase gene cluster, by isotopic and non‐isotopic in situ hybridization and by linkage analysis
Authors: EDWARDS Y. , WILLIAMS S. , WEST L. , LIPOWICZ S. , SHEER D. , ATTWOOD J. , SPURR N. , SARKAR R. , SAHA N. , POVEY S. 
Published: September 2007

SUMMARYRestriction fragment length polymorphism at the D8S8 locus is explained by the occurrence of at least two alternative alleles at two separate TaqI sites; Taql‐A allele frequencies 0–73 and 0–27 and Taql‐B allele frequencies 0–94 and 0–06. The D8S8 locus has been assigned to 8q 13–21.1, near to the carbonic anhydrase (CA) gene cluster, by in situ hybridization to metaphase chromosomes using both tritium and immunofluorescently labelled probes. Linkage analysis using the CEPH family DNA panel indicates a close genetic linkage between D8S8 and CA3, with a lod score of + 7–80 at TH – 0.05 in males.
Y chromosome DNA polymorphisms in human populations: differences between Caucasoids and Africans detected by 49a and 49f probes
Authors: TC‐RRONI A. , SEMINO O. , SCOZZARI R. , SIRUGO G. , SPEDINI G. , ABBAS N. , FELLOUS M. , BENERECETTI A. S. SANTACHIARA 
Published: September 2007

SUMMARYSeveral Y‐specific TaqI fragments are recognized by 49a and 49f probes in human male DNA digests. The occurrence of polymorphic variations in six of these fragments (A, B, C, D, F and I) has recently been reported, providing a potentially powerful tool for the study of the population genetics of the Y chromosome. The 49a‐49f/71agl polymorphisms were studied in 121 Africans (Senegal and Cameroon) and 125 Caucasians (Italy). In addition to the variability described already, four new bands were observed. Moreover, three patterns were found in which bands constantly present so far (G, 0 and H‐P‐R) were missing.At variance with previously reported findings, the coexistence of two different fragments of the same ‘allelic’ series (A or D) was frequently observed in the Italian sample (10‐4%). For some of these ‘double‐banded’ patterns their holoandric transmission could be demonstrated by family studies. In the light of these new findings, the hypothesis of A or D fragments being allelic forms, as advanced by the authors who first described these polymorphisms, has to be reconsidered.A total of 34 haplotypes were encountered, 22 of which are new. The Africans tested all lack C and D fragments. Moreover, about 80% of them are characterized by a band, A1 not present in the Italian group. The combination of A1C0D0 could therefore be a powerful genetic marker of paternal African ancestry. This combination occurs in five haplo types, one of which, haplotype IV, accounts for 68% of the African sample.In contrast with the results of the mtDNA analysis on the same population samples, the degree of variability displayed by the Y chromosome sequences appears to be much lower in Africans than in Caucasians.
The Oxford Grid
Authors: EDWARDS J.H. 
Published: September 2007

SUMMARYThe ‘Oxford Grid’ is a term used to denote a method of displaying homologous loci from two species. It may also be used as a basis for historical inferences relating to co‐ancestry. These uses are discussed with special reference to man and mouse. It is inferred that as few as 30 reciprocal translocations are sufficient to explain the differences defined by the present grid and that the telocentric karyotype, through which the mouse differs from both man and many closely related rodents, including the rat, must have evolved mainly through the formation and suppression of centromeres rather than through pericentric inversions. Mouse and man share the widest distribution of any mammal and their success appears to be related to being omnivorous with behavioural modifications allowing a wide range of habitat.
A generalized non‐iterative approach to the analysis of family data
Authors: ELIASZIW M. , DONNER A. 
Published: September 2007

SUMMARYA unified non‐iterative approach to point and interval estimation of interclass and intraclass correlations is presented in the context of family studies where there may be more than one individual in each of two classes. The procedure involves a generalization of the Pearson product‐moment correlation coefficient, where one permits different weights for the pairs of scores. Unlike the maximum likelihood approach, these estimators are not derived under the assumption of a particular parametric form nor do they require an iterative solution. The asymptotic distributions of the generalized product‐moment estimator and of the maximum likelihood estimator are derived under the assumption of normality. Also, several methods for constructing confidence intervals about the interclass correlation parameter are outlined, and the effectiveness of these methods is evaluated by Monte Carlo simulation. Although the focus of this paper is on the analysis of familial data, the methods discussed are applicable to more general situations, including the assessment of correlations between any two variables where each variable is replicated a different number of times for each sample unit.
EcoRI‐RFLP of the Apo B gene: a study in a sample group from South Italy
Authors: BENEDICTIS G. DE , ROSE G. , MAZZEI R. , LEONE O. , CRESCIBENE L. , BRANCATI C. , CAROTENUTO L. 
Published: September 2007

SUMMARY EcoRI restriction analysis at codon 4154 of the Apo B gene was performed in a sample of 90 subjects from southern Italy (sample S), using total blood cell DNA amplified by PCR. A group of 46 subjects from northern Italy (sample N) was also investigated for comparison. Southern Italians showed an incidence of the R2 allele (absence of the cutting site) twice as high as that found in northern Italians (48 v. 21 %). By ASPCR the mutation which abolishes the restriction site was confirmed as being G→A at the first base of the 4154 codon of the Apo B gene (Glu→Lys) in both S and N samples. By studying the variability of cholesterolaemia among different EcoRI genotypes in the S sample, it was estimated that the average effect of the R2 allele is to lower serum cholesterol by 8‐5 mg/dl.
The molecular basis and diagnosis of familial hypercholesterolaemia in South African Afrikaners
Authors: KOTZE M. J. , LANGENHOVEN E. , WARNICH L. , PLESSIS L. DU , RETIEF A. E. 
Published: September 2007

SUMMARYThree different point mutations were recently identified in South African familial hypercholesterolaemics. These mutations result in the modification of recognition sites of specific restriction endonucleases. This study describes rapid methods for presymptomatic detection of these defects based on restriction enzyme analysis or allele‐specific hybridization of enzymatically amplified genomic DNA. These methods were used to determine the frequencies of the three known low‐density lipoprotein (LDL) receptor gene mutations in 138 chromosomes of Afrikaner FH patients. It has been shown that a common mutation at the 3′ end of exon 4 (base 681) of the LDL receptor gene is present in about 70% of alleles, while the mutations in exons 9 (base 1285) and 4 (base 523) of the gene are present in about 20 and 10% respectively of the genes studied. These mutations were found in approximately 95% of Afrikaner familial hypercholesterolaemic patients studied, indicating at least three founder members for the disease in this population of South Arica.
Assignment of eight human genomic DNA sequences detecting high frequency restriction fragment length polymorphisms
Authors: SPURR N. K. , KELSELL D. , ROOKE L. , CAVALLI‐SFORZA L. L. , BOWCOCK A. , FEDER J. 
Published: September 2007

SUMMARYFrom a lambda Charon 4A library digested with EcoRI, eight human genomic clones have been isolated, each detecting a high frequency RFLP. These phage clones have been assigned to eight different human chromosomes using Southern blot analysis and human‐rodent somatic cell hybrids.