bluuebunny/crossref_metadata_2025_split huggingface dataset:
A genetic history of Italy
Authors: PIAZZA A. , CAPPELLO N. , OLIVETTI E. , RENDINE S. 
Published: September 2007

SummaryStatistical techniques for displaying the geographical distribution of many genes in few synthetic images have been used to represent the various patterns of gene frequencies in Europe and in the world (Menozzi et al. 1978; Piazza et al. 1981a). It has also been shown that such synthetic displays are particularly useful in detecting clines of genetic differentiation associated with movements of populations like those accompanying the Neolithic expansion of farmers from the Near East or, in more recent times, the putative diffusion of Indo‐European‐speaking populations (Ammerman & Cavalli‐Sforza, 1984; Gimbutas, 1973).In this paper we use the same combination of statistical and graphical techniques to study the genetic structure of Italy, a European country whose unity of people and cultures was quite a recent event. The possibility of studying genetic differentiation in a small geographical area is tested and trends of genetic differences are tentatively interpreted in terms of historic and linguistic knowledge. The few demographic pieces of information taken from historical sources and compared with linguistic records support the hypothesis that the genetic structure of Italy still reflects the ethnic stratification of pre‐Roman times.
Confirmation of the relationship of HLA (chromosome 6) genes to depression and manic depression II. The Ontario follow‐up and analysis of 117 kindreds
Authors: STANCER H. C. , WEITKAMP L. R. , PERSAD E. , FLOOD C. , JORNA T. , GUTTORMSEN S. A. , YAGNOW R. L. 
Published: September 2007

SummaryHLA typing was conducted on 577 family members of 86 families having at least two first‐degree family members with a lifetime history of major depression or bipolar disorder. The results were combined with a follow‐up study of 10 Newfoundland kindreds and with the data obtained from our previous studies, giving a total cohort of 117 families of diverse ethnic and geographic origin. There was increased sharing of HLA haplotypes, as compared with random expectation, over all possible pairwise comparisons both in the follow‐up studies (P < 0.025) and in the total data (P < 0.01). The increase in HLA haplotype sharing over random expectation was greater if comparisons within heavily loaded sibships (by prior convention, sibships with three or more affected siblings) were omitted from the analysis (P < 0.002). There was also non‐random transmission of HLA haplotypes in 50 families selected for a low‐load, unaffected parent (P < 0.005). Thus, we conclude that genes in the HLA region of chromosome 6 constitute one of the elements in the multifactorial etiology of affective disorder. This conclusion does not depend on any assumption concerning genetic heterogeneity or epistasis or on specific modes of transmission, penetrance values or linkage distances. In addition, the data suggest that chromosome 6 region genes may have a different effect in unipolar and bipolar illness.
A cytogenetic study of 47, XXY males of known origin and their parents
Authors: JACOBS P. A. , BACINO C. , HASSOLD T. , MORTON N. E. , KESTON M. , LEE M. 
Published: September 2007

SummaryA number of patients with both sex chromosome aneuploidy and the fragile X syndrome have been reported and this has led to the hypothesis that females heterozygous for the fragile X mutation have an increased rate of meiotic nondisjunction. Furthermore the suggestion has frequently been made that a predisposition to meiotic nondisjunction is associated with an increase in mitotic nondisjunction.We have tested these two hypotheses by examining the chromosomes of a series of 47, XXY males and their parents. In the majority the parental origin of the additional sex chromosome was known. The cells were cultured under conditions suitable for demonstrating the fragile X and 100 cells were scored ‘blind’ from the patients and both parents. No fragile X individual was seen and there was no difference in the proportion of aneuploid cells between the parents in whom the nondisjunction event occurred and the control parents. Therefore, our results lend no support to the suggestions that the fragile X is associated with an increase in sex chromosome aneuploidy or that individuals in whom meiotic nondisjunction occurs have an increased level of mitotic nondisjunction.
Evidence on incest based on homozygosity The use of multiple hypervariable probes for the probable detection or exclusion of incest
Authors: EDWARDS J. H. 
Published: September 2007

SummaryAn opinion is sometimes requested on the future health of a child who is up for adoption when parental incest is a realistic possibility and it is impossible or inexpedient to acquire blood from both parents. In such circumstances evidence of incest may be obtained by an analysis of blood from the child alone.
Molecular characterization of human X/Y translocations suggests their aetiology through aberrant exchange between homologous sequences on Xp and Yq
Authors: Ballabio A. , Carrozzo R. , Gil A. , Gillard B. , Affara N. , Fferguson‐Smith M. A. , Fraser N. , Craig I. , Rocchi M. , Romeo G. , Andria G. 
Published: September 2007

SummarySeveral DNA sequences from two homologous regions, localized on the distal part of the human X chromosome short arm and on the long arm of the Y chromosome, have been hybridized to DNAs from seven human‐rodent hybrids containing human X; Y translocation chromosomes. Molecular characterization of the translocated chromosomes has revealed, in all but one case, transfer of the Y cluster of sequences and complete deletion of the corresponding X‐chromosomal sequences. The possible role of X/Y homology in the aetiology of X; Y translocations is proposed.
Cloning, experession and chromosomal localization of a member of the human cytochrome P450IIC gene sub‐family
Authors: Shephard E. A. , Phillips I. R. , Santisteban I. , Palmer C. N. A. , Povey S. 
Published: September 2007

SummaryWe have isolatd and sequenced a cDNA clone (pB8) that codes for a novel member of the dcytochrome P450IIC sub‐family of man. Analysis, by Southern blot hybridization, of DNA isolated from a panel of nine independent human‐rodent somatic cell hybrids demonstrated that the corresponding gene (CYP2C) is located on human chromosome 10. Northern blot hybridization of RNA isolated from human livers revealed a 10‐fold inter‐indicidual variation in the expression of the gene.
The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations
Authors: Therman E. , Susman B. , Denniston C. 
Published: September 2007

SummaryThe present study explores the origin of human Robertsonian translocations (RT) and the causes of the nonrandom participation of the different acrocentrics in them. Satellite associations have been analysed in 966 cells from 8 persons, and 1266 RT with ascertainment have been collected from the literature. The observation that the chromosomes preferentially taking part in satellite associations vary between individuals is confirmed. However, since a preferred chromosome appears to associate at random with the others, this phenomenon should not add to the nonrandomness of the RT.Most RT presumably arise through adjacent chromatid exchanges corresponding to mitotic chiasmata, in the pericentric regions of the acrocentrics. Our working hypothesis is that there is a basic exchange rate between any two acrocentrics. The surplus of t(14q21q) is presumed to depend on these two chromosomes having a homologous pericentric region. The 10–20 times higher incidence of t(13q14q) as compared with other RT is best explained by crossing‐over between homologous, but relatively inverted, segments in these chromosomes. Of the 246 RT ascertained through repeated abortions or infertility, 56 were found through the latter. Of these, chromosome 14 was involved in 51. The infertility may be caused by a small deletion of 14q, as is often the case in 15q in Prader‐Willi syndrome. In all RT ascertained through 21 or 13 trisomy, respectively, the relevant chromosome is one of the participants. Our data thus do not give any support to the idea of interchromosomal effects exerted by RT.
Chromosome maps of man and mouse. IV
Authors: SEARLE A. G. , PETERS J. , LYON M. F. , HALL J. G. , EVANS E. P. , EDWARDS J. H. , BUCKLE V. J. 
Published: September 2007

SUMMARYCurrent knowledge of man‐mouse genetic homology is presented in the form of chromosomal displays, tables and a grid, which show locations of the 322 loci now assigned to chromosomes in both species, as well as 12 DNA segments not yet associated with gene loci. At least 50 conserved autosomal segments with two or more loci have been identified, twelve of which are over 20 cM long in the mouse, as well as five conserved segments on the X chromosome. All human and mouse chromosomes now have conserved regions; human 17 still shows the least evidence of rearrangement, with a single long conserved segment which apparently spans the centromere. The loci include 102 which are known to be associated with human hereditary disease; these are listed separately. Human parental effects which may well be the result of genomic imprinting are reviewed and the location of the factors concerned displayed in relation to mouse chromosomal regions which have been implicated in imprinting phenomena.
Different polymorphic variants of glucose‐6‐phiosphate dehydrogenase (G6PD) in Italy.
Authors: FIORELLI G. , MANOUSSAKIS C. , SAMPIETRO M. , PITTALIS S. , GLUGLIELMINO C. R. , CAPPELLINI M. D. 
Published: September 2007

SUMMARHGlucose‐6‐phosphate dehydrogenase (G6PD) deficiency is common in Italy and recent biochemical and kinetic studies have demonstrated the presence of polymorphic variants associated with severe or mild enzyme deficiency. We performed a biochemical characterization of G6PD in a large number of Italian G6PD deficient men in an attempt to identify the most reliable biochemical indices for discriminating polymorphic G6PD variants and to define their distribution throughout the country. Three polymorphic G6PD variants, respectively named Mediterranean, Cagliari and Sassari, were identified. The elution profile on DEAE‐Sephadex column chromatography, substrate analogue utilization and the Michaelis constant for G6P were the most significant parameters to discriminate polymorphic variants among the variants with activity levels lower than 0.8 IU/g Hb. The distribution of the polymorphic variants, in relation to the origin of the subjects studied, differs throughout the country.
Subtypes of HLA‐DQ and ‐DR defined by DQB1 and DRB1 RFLPs: allele frequencies in the general population and in insulin‐dependent diabetes (IDDM) and multiple sclerosis patients
Authors: GOGOLIN K. J. , KOLAGA V. J. , BAKER L. , LISAK R. P. , ZMIJEWSKI C. M. , SPIELMAN R. S. 
Published: September 2007

SUMMARYWe have used the HLA‐DQB1 gene as a Southern hybridization probe with TaqI‐digested genomic DNA in a study of 600 haplotypes from unrelated individuals and have characterized HLA‐DQB1 RFLP patterns associated with the DR specificities DR1‐DRw10 and DN1. For six of the specificities (DR2, 4, w6, 7, w8 and 9), we have also identified subtypes (multiple DQB1 band patterns), In a previous study (Cox Pt al. 1988), we identified RPLPs and subtypes with a DRB1 probe. Using the present results from DQB1 RFLPs to supplement those from DRB1 RFLPs, it was possible to discriminate among all the DR specificities with the exception of a minority of DR7 and DR9 subtypes. A comparison of DQB1 and DRB1 subtypes in the same subjects showed strong linkage disequilibrium for subtypes of some but not all DR specificities. We have also determined the allele frequencies of the DQBl subtypes in controls and in patients with insulin‐dependent diabetes mellitus (IDDM) or multiple sclerosis (MS). A consideration of subtypes in patients and controls indicated that for most DR specificities, neither IDDM nor MS was more strongly associated with any of the DQBl subtypes than with the serologically defined DR antigens. The exveptions were the DQBl patterns corresponding to the DQw3.2 subtype of DR4 and the rarer subtype of DR2, which were found in higher frequency in IDDM patients, as has been previously reported.
Common glucose‐6‐phosphate dehydrogenase (G6PD) variants from the Italian population: biochemical and molecular characterization
Authors: VIGLIETTO G. , MONTANARO V. , CALABRÒ V. , VALLONE D. , D'URSO M. , PERSICO M. G. , BATTISTUZZI G. 
Published: September 2007

SUMMARYBy biochemical characterization of glucose‐6‐phosphate dehydrogenase (G6PD) from the red cells of seventeen subjects of the population of Matera (Southern Italy) we have identified six genetically determined common variants. Among these, G6PD Metaponto and G6PD A(–) Matera had been already fully characterized. We have now found that A(–) Matera is genetically heterogeneous since one of two subjects examined had the two mutations at codons 68 and 126 characteristic of a typical A(–) variant, while the other subject had only the codon 126 mutation. G6PD Pisticci and G6PD Tursi are two new variants whose molecular lesion is not yet known. G6PD Cagliari‐like has biochemical characteristics reminiscent of G6PD Cagliari, isolated in Sardinia, and was found to have the same nucleotide substitution as G6PD Mediterranean. G6PD Montalbano is a new variant, with nearly normal properties, due to a G→A transition which causes an Arg→His amino acid replacement at position 285.
Isolation and use of chromosome 1 probes for linkage studies on Charcot‐Marie‐Tooth disease
Authors: GRIFFITHS L. R. , ZWI M. B. , MESTEROVIC N. , ROSS D. A. , BOARD P. G. , CALLEN D. F. , MOHANDAS T. , BUCKLAND R. , FLETCHER J. M. , DRIESEL A. J. , McLEOD J. G. , NICHOLSON G. A. 
Published: September 2007

SUMMARYNine probes were isolated from a human chromosome 1 enriched library and mapped to regions of chromosome 1 using somatic cell hybrid lines. One clone, LR67, which mapped to 1q12 → q23 detected a BglI RFLP. This probe, as well as 4 other known chromosome 1 markers, α‐spectrin, Factor XIIIB, DR10 and DR78, were used for linkage studies in 15 Charcot‐Marie‐Tooth disease (CMT1) families. Close linkage of CMT1 to any of the 5 markers was not indicated. Total lod scores excluded linkage of CMT1 to LR67 and to DR10 at 5 cM or less, to DR78 at 10 cM or less, α‐spectrin at 15 cM or less and Factor XIIIB at 20 cM or less. Possible linkage, however, was shown between LR67 and CMT1 at a distance of 30 cM. Also linkage at a distance of 5 cM was detected between this probe and α‐spectrin.
A centromere map of the X chromosome from trisomies of maternal origin
Authors: MORTON N. E. , KEATS B. J. , JACOBS P. A. , HASSOLD T. , PETTAY D. , HARVEY J. , ANDREWS V. 
Published: September 2007

SUMMARYA centromere map is derived from XXX and XXY trisomies of maternal origin. Preliminary data suggest reduced recombination in the tetrads giving rise to mei I nondisjunction, but an excess of recombination in the pericentric region. As in Drosophila, multichiasmate tetrads may be more at risk of nondisjunction than nullochiasmate tetrads.
Multilocus ordering strategies based on sperm typing
Authors: GORADIA T. M. , LANGE K. 
Published: September 2007

SUMMARYSperm typing is a promising new approach for fine‐structure human gene mapping. We examine three‐locus sperm typing and its implications for the estimation of recombination fractions and for locus ordering. In particular, we compare some sequential stopping rules for three‐locus order assignment and develop methods for approximating their mean stopping times and error probabilities. A stopping rule recently described by Thompson and Boehnke et al. appears to be nearly optimal. Under this rule, one stops sampling as soon as the number of sperm of the least frequent recombinant type is s fewer than the number of sperm of the next least frequent type. We develop a random‐walk algorithm and some heuristic formulas for assessing the performance of this rule.Since the broader goal of linkage analysis is to order many more than three loci, we propose a trisection strategy for ordering a new locus relative to an existing ordered set of loci. The crux of the trisection strategy is to restrict attention to the smallest block of ordered loci among which the new locus can fall and to divide this block into thirds for the next comparison. This trisection strategy is optimal in the sense that it has the best worst‐case performance of any strategy. When it is applied sequentially to order a collection of loci, it is only nearly optimal, as we demonstrate by specific counter‐example. However, it does become asymptotically optimal as the size of the collection increases.
Comparison of simple and modified Bernstein's methods in estimation of recessive allele frequency in the HLA system
Authors: NAM J.‐M. 
Published: September 2007

SUMMARYBias and inefficiency of Bernstein's estimator of the recessive allele frequency in generalized ABO‐like systems are important for situations where the frequency is small and the number of codominant alleles is large. A modified Bernstein's estimator of the recessive (Smith, 1967) has much smaller bias and higher efficiency than Bernstein's for large samples. Analogous findings are generally observed for small and moderate samples by Monte Carlo experiments. The modified method is preferred for the recessive frequency in the HLA system. The results are illustrated by numerical examples.
Counting algorithms for linkage
Authors: MORTON N. E. , COLLINS A. 
Published: September 2007

SUMMARYThe Lander‐Green algorithm is algebraically different from the EM algorithm that maximizes likelihood. In our experience the numerical difference is very small. Since computations are no easier or convergence faster for the Lander–Green algorithm, there is no reason to prefer it to EM. As suggested by Green (personal communication), layering is advantageous. Occasional updating of the information weights might also be considered to accelerate mapping.
The Gm‐Pi linkage in 843 French families: effect of the alleles Pi Z and Pi S
Authors: BABRON M.‐C. , CONSTANS J. , DUGOUJON J. M. , CAMBON‐THOMSEN A. , BONAÏTI‐PELLIÉ C. 
Published: September 2007

SUMMARYLinkage analysis was performed between Gm and Pi in 843 French families. The overall recombination fraction is equal to025 with a sex difference ratio of 1–4 (recombination fraction of 020 in males and 0–29 in females), confirming previous results in the literature. Our study does not confirm the existence of a heterogeneity in recombination rate of Pi S versus non‐S alleles, but it confirms the previous finding that the presence of the Pi Z allele tends to decrease the recombination rate between the two loci. This decrease appears to be similar in both sexes, and not uniquely in males as previously noted. This result suggests a possible linkage disequilibrium between the Pi Z allele and a presumably large inversion between the two loci Gm and Pi.
Using age of onset to distinguish between subforms of breast cancer
Authors: CLAUS E. B. , RISCH N. J. , THOMPSON W. D. 
Published: September 2007

SUMMARYInformation on family history and age of onset of breast cancer is examined in an attempt to distinguish between postulated early and late onset forms of breast cancer and to estimate the familial correlation between any subforms that may exist. Data are taken from the Cancer and Steroid Hormone Study, a multicentre, population‐based, case‐control study conducted by the Centers for Disease Control (CDC). The data set includes 4730 histologically confirmed breast cancer cases aged 20–54 and 4688 controls who were frequency‐matched to cases by geographic region and five‐year categories of age. Data regarding family history of breast cancer for mothers and sisters of cases and controls are used in this analysis. The methods of Smith (1976) are modified to obtain maximum likelihood estimates of heritability and familial correlation using 35, 40, 45, and 50 years of age as the dividing point between early and late onset. The heritabilities for both the early and late onset forms decrease and approach one another in size with increasing age outpoint, although the heritability for the early group is always greater than that for the late group. Irrespective of cutpoint, the familial correlation between the two groups does not differ significantly from one, providing evidence for a single genetic form of breast cancer with familial cases increasingly represented among cases with earlier onset.
Isolation of a cDNA probe for the human intestinal dipeptidylpeptidase IV and assignment of the gene locus DPP4 to chromosome 2
Authors: DARMOUL D. , LACASA M. , CHANTRET I. , SWALLOW D. M. , TRUGNAN G. 
Published: September 2007

SUMMARYWe report the nucleotide sequence and derived amino‐acid sequence of a cDNA clone encoding the 3′ end of human intestinal dipeptidylpeptidase IV (DPP‐IV). This cDNA probe identifies a 4 kb mRNA in the human colon cancer cell line Caco‐2. We demonstrate here an extensive homology between this human DPP‐IV cDNA and the recently published rat liver DPP‐IV cDNA. Using the human DPP‐IV cDNA to probe genomic DNA from a panel of somatic cell hybrids we have assigned the gene encoding human DPP‐IV to chromosome 2.
A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome
Authors: JACOBS P. A. , BETTS P. R. , COCKWELL A. E. , CROLLA J. A. , MACKENZIE M. J. , ROBINSON D. O. , YOUINGS S. A. 
Published: September 2007

SUMMARYThe results of a cytogenetic and molecular reinvestigation of a series of 52 patients with Turner's syndrome are reported. No evidence of Y chromosome material was found among the patients with a 45, X constitution but two patients were found to have a cell line with a r(Y) chromosome which was previously thought to be a r(X). The parental origin of the single X in the 45, X patients was maternal in 69% and paternal in 31%, a similar ratio to that seen among spontaneously aborted 45, X conceptuses. This suggests that X‐chromosome imprinting is not responsible for the two grossly different phenotypes associated with a 45, X chromosome constitution. Approximately half of the structurally abnormal X chromosomes were maternal in origin and half paternal. This observation is consistent with either a meiotic or post‐zygotic mitotic origin and at variance with the predominantly paternal origin reported for autosome structural abnormalities.
On the estimation of the age at onset distribution in Huntington's chorea using the EM algorithm
Authors: BRAMBILLA C. , FRONTALI M. , MALASPINA P. , ROSSI C. 
Published: September 2007

SUMMARYHuntington's chorea is a late onset disease of the nervous system whose mode of inheritance conforms to the autosomal dominant model. The present paper shows how the problem of estimating the distribution of age at onset of the disease can be dealt with as an incomplete data problem via the EM algorithm, both in the parametric and non‐parametric setting. In this way it is possible to take into account not only the heterozygotes in the population under study who are manifestly affected, but also those who are apparently unaffected. The estimation of the distribution of age at onset of the disease is required for estimating the posterior probability of heterozygosity of the individual at risk using Bayes' theorem. The proposed approach was applied to data derived from a survey carried out on the population of Latium, Italy.