bluuebunny/crossref_metadata_2025_split huggingface dataset:
Dermatoglyphic findings in fragile X syndrome: a causal hypothesis points to X‐Y interchange
Authors: LOESCH D. Z. 
Published: September 2007

SummaryDermatoglyphic analysis which included topological pattern elements, pattern intensities and dermatoglyphic measurements was performed in 90 male and 110 female fragile X subjects. Data on cytogenetic and intellectual assessments were also available in these individuals. The following conclusions have been drawn from the obtained results.1. The fragile X syndrome is associated with an appreciable deviation in dermatoglyphic patterns and measurements, especially in males, which may be utilized for diagnostic purposes.2. The variability in patterns and measurements is considerably increased which, together with irregular distributions, indicates that the fragile X condition may not be homogeneous.3. The type of deviation in either sex is not inconsistent with the effect of an excessive dosage of the Y, combined with a deficit of the X chromosome and is, therefore, indicative of the X‐Y chromosomal rearrangement as an initial lesion in fragile X. Since the deviation may not be specific, direct evidence for such rearrangement should be sought by means of molecular techniques.
Genetic heterogeneity of S‐formylglutathione hydrolase
Authors: BOARD P. G. , COGGAN M. 
Published: September 2007

SUMMARYS‐formylglutathione hydrolase from erythrocytes has been studied by an electrophoretic technique. Three phenotypes were observed in a number of racial groups. The electrophoretic polymorphism was shown to be the product of two alleles at a single locus termed FGH. The product of the type 2 allele was found to be relatively unstable.
Characterization and use of somatic cell hybrids with interspecific translocations involving the human X chromosome
Authors: BOYD Y. 
Published: September 2007

SummaryTwo hybrid cell lines, whose only human material was a portion of the X translocated on to a mouse chromosome, have been characterized by cytogenetics, in situ hybridization and Southern blotting. In one hybrid (HORL911R8B) the region Xpter to Xq2(2–4) was identified. In the other (PIP) the single human fragment was found to contain sequences from two separate X chromosomal regions (corresponding approximately to Xp11.4–Xp22.1 and Xq26–Xqter). These two hybrids in combination with a third (WAG 8) retaining Xqter to Xp21 as a human X‐autosome translocation chromosome, form a mapping panel for rapid subregional assignments to the human X chromosome. This mapping panel has been used to provide information about the order of DNA sequences derived from the X chromosome and to provide an assignment for an anonymous DNA segment, M201γ, to Xp11.4–Xp21.1.
The effect of recombination between the X and Y chromosomes of mammals
Authors: BENGTSSON B. O. , GOODFELLOW P. N. 
Published: September 2007

SummaryRecent molecular analysis has proved the hypothesis that parts of the human sex chromosomes are homologous and can recombine in male meiosis. The biological consequences of this recombination have been investigated by considering the joint effect of neutral mutation and random genetic drift on a locus that is closely linked to the non‐homologous segments of the sex chromosomes, but which recombines with them in an appreciable frequency. Our model predicts that, in the absence of selection, allelic differentiation between genes carried on the X and on the Y chromosomes will develop only if the recombination rate is of the same order of magnitude as the mutation rate or smaller.Similarly, a mutation favourable in males but disadvantageous in females will increase in frequency on the Y chromosomes, while remaining rare on the X chromosomes, only if the recombination rate is smaller than the fitness advantage of the mutation.The X and Y chromosomes are, thus, not expected to show any genetic differentiation for almost all of their homologous parts. Divergence will occur only for loci that very rarely recombine between the sex chromosomes.
Localization of PEPD to the long arm of chromosome 19
Authors: DAVIS M. B. , SCHONK D. , MONTEIRO M. , OERLEMANS F. , POVEY S. , WIERINGA B. 
Published: September 2007

SummaryA panel of human‐rodent somatic cell hybrids containing different regions of chromosome 19 has been used to obtain a regional localization for peptidase D. The results assign PEPD to the long arm of chromosome 19, in the region cen‐g13.2.
Haplotype relative risks: an easy reliable way to construct a proper control sample for risk calculations
Authors: FALK C. T. , RUBINSTEIN P. 
Published: September 2007

SummaryAn alternative to Woolf's (1955) relative risk (RR) statistic is proposed for use in calculating the risk of disease in the presence of particular antigens or phenotypes. This alternative uses, as the control sample, the parental antigens or haplotypes not present in the affected child. The formulation of a haplotype relative risk (HRR) thus eliminates the problems of sampling from the same homogeneous population to form both the disease sample and an appropriate control.We show that, in families selected through a single affected individual, where transmission of the four parental haplotypes can be followed unambiguously, the mathematical expectation of the HRR is identical to that of the RR. Since the sample formed from the ‘non‐affected’ parental haplotypes is clearly from the same population as the disease sample, the HRR thus provides a reliable alternative to the RR. A further advantage obtains when family data are being collected as part of a study since the control sample is then automatically contained in the family material.Data from studies of patients with insulin dependent diabetes mellitus (IDDM) are used to obtain an estimate of the risk to those with HLA antigens or phenotypes associated with IDDM using the HRR statistic. A comparison of the HRR's and RR's for these data is also presented.
Antigen sharing in couples in a two‐locus ABO‐like system
Authors: LARSEN S. O. , HANSEN H. E. 
Published: September 2007

SummaryThe probabilities with which the two members of a couple share no, one or two antigens on each of two loci in ABO‐like systems are derived. As an example, expected values concerning the HLA‐A, B system are compared with observed frequencies in a material of 690 couples. A FORTRAN program for calculation of the gene‐sharing probabilities is available.
Breakpoint distribution in constitutional chromosome rearrangements with respect to fragile sites
Authors: PORFIRIO B. , DALLAPICCOLA B. , TERRENATO L. 
Published: September 2007

SummaryIn an attempt to investigate possible relationships between fragile site bands and chromosome abnormalities, we have analysed the distribution of 6391 breakpoints found in constitutional rearrangements.Were relative band lengths to be ignored, a general trend for breaks to be located in fragile site bands would be confirmed. On the other hand, no difference was detected between bands with or without fragile sites if the probability of breakage for each single band is assumed to be proportional to its length. Nevertheless, a number of bands with a great excess of breakage events were identified.
Biochemical and genetic identity of alpha‐keto acid reductase and cytoplasmic malate dehydrogenase from human erythrocytes
Authors: FRIEDRICH C. A. , FERRELL R. E. , SICILIANO M. J. , KITTO G. B. 
Published: September 2007

SummaryWe have recently shown that cytoplasmic malate dehydrogenase (MDH‐s) from several non‐human species catalyses the reduction of aromatic alpha‐keto acids in the presence of NADH (Friedrich et al. 1987), an activity previously attributed to the enzyme aromatic alpha‐keto acid reductase (KAR E.C. 1.1.1. 96). Here we present evidence that this also occurs in humans, and that the previously characterized human KAR is not the product of a genetically distinct locus.Human MDH‐s and KAR activities co‐migrate after starch gel electrophoresis, and electrophoretic variants of human MDH‐s exhibited identical variation for KAR. Both enzymes show almost no electrophoretic variation among human populations of diverse origin. The reduction of aromatic alpha‐keto acids is substantially inhibited by malate, the end‐product of the MDH reaction. Antibodies raised against purified chicken MDH‐s equally inhibited both MDH‐s and KAR in chickens and humans. The bulk of the KAR activity in human blood appears to be due to MDH‐s, with a minor fraction catalysed by LDH, as is the case in most other species studied.The previous assignment of a gene for KAR to human chromosome 12 in human/Chinese hamster somatic cell hybrids is questioned because interspecific hybrid bands of both MDH‐s and LDH appear with slightly different mobility approximately midway between the human and hamster controls in somatic cell hybrid studies, and the meaning of this artifact is discussed.The discovery that MDH reacts with intermediate metabolites of phenylalanine and tyrosine has implications in relation to the mechanism by which mental retardation may be produced in phenylketonuria (PKU), and the effect of MDH inhibition on oxidàtive phosphorylation in the various tyrosinaemias is discussed.
A new method to test genetic models in HLA associated diseases: the MASC method
Authors: CLERGET‐DARPOUX F. , BABRON M. C. , PRUM B. , LATHROP G. M. , DESCHAMPS I. , HORS J. 
Published: September 2007

SummaryWe propose a new method to analyse data on HLA associated diseases. The method uses the simultaneous information on the marker associations and segregation with the disease. It may also take into account the differential risk of being affected for specific relatives of a patient as well as the differential HLA haplotype sharing according to the marker genotype of the patient. It is based on the principle of minimization of a sum of independent chi‐squares. It allows us to test the goodness‐of‐fit of various models in an easy and economical way.The method is applied to a sample of 269 French IDDM patients and their relatives leading to the rejection of models with one locus closely linked to HLA with two and three alleles.
Mitochondrial DNA polymorphisms in Italy; III. Population data from Sicily: a possible quantitation of maternal African ancestry
Authors: SEMINO O. , TORRONI A. , SCOZZARI R. , BREGA A. , BENEDICTIS G. De , BENERECETTI A. S. SANTACHIARA 
Published: September 2007

SUMMARYmtDNA polymorphisms were studied in a sample of 90 individuals of the Sicilian population using six restriction enzymes: HpaI, BamHI, HaeII, MspI, AvaII and HincII.(1) Three new patterns, for MspI, AvaII and HincII, have been detected.(2) At least two different mutations were found to account for both the AvaII morph 3 and the AvaII morph 9 as in many other Caucasian groups so far examined.(3) Seventeen types were found; of these six are new.The frequency (54.5%) of type 1–2 (2.1.1.1.1.2) is lower than in the rest of Italy whereas those of type 6‐2 (2.1.2.1.1.2) (10.0%) and type 18‐2 (2.3.1.4.9*.2) (12.2%) lie at the upper level of the Italian range.The 18‐derivative, type 57‐2 (2.3.1.4.13*.2), which is consistently found in all Italian samples, is present also among Sicilians with an incidence of 2.2%.(4) Of particular interest is that the HpaI‐3/AvaII‐3 complex, which is unique to groups of African ancestry, was found in Sicily at a frequency of 4.4%. For the first time an estimate of the amount of gene flow from Blacks to the Sicilian gene pool could be obtained.
The assignment of the genes coding for human complement components C6 and C7 to chromosome 5
Authors: JEREMIAH S. J. , ABBOTT C. M. , MURAD Z. , POVEY S. , THOMAS H. J. , SOLOMON E. , DiSCIPIO R. G. , FEY G. H. 
Published: September 2007

SUMMARYA panel of 19 somatic cell hybrids was tested for the presence of human sequences coding for complement components C6 and C7 by restriction enzyme digestion and Southern blots probed with human C6 and C7 cDNA probes. C7 was also detected by amplifying part of the human gene in hybrid DNA using the polymerase chain reaction. Detection of human C6 and C7 was completely correlated with the presence of chromosome 5.
Use of DNA amplification (PCR) and direct DNA sequencing in the characterization of C4 alleles
Authors: BERG E. S. , MARKUSSEN G. , TEISBERG P. , OLAISEN B. 
Published: September 2007

SUMMARYA procedure for detailed characterization of individual C4 alleles has been developed. DNA containing the two polymorphic clusters of C4 was amplified in the polymerase chain reaction (PCR). Direct DNA sequencing of amplified DNA was then performed by a modification of previously described techniques. The results were confirmed by M13 sequencing.Single C4A3 and C4B1 allele sequences were in accordance with previous reports. An individual typed C4A3B1 revealed double bands in the autoradiogram in the positions corresponding to the polymorphic nucleotides. We did not find the reported thymine in position 3641 specific for the C4A4 allele in an individual typed C4A4B2.
Counting algorithms for linkage: correction to Morton and Collins
Authors: LANDER E. S. , GREEN P. 
Published: September 2007

SUMMARYIn a recent paper, Morton & Collins (1990) claimed: (1) that the Lander‐Green algorithm for genetic linkage analysis is not the EM algorithm for finding the maximum likelihood map; and (2) that a proposed alternative algorithm does have these properties. Here, we show that these assertions are both incorrect: the Lander‐Green algorithm is an EM algorithm, while the Morton‐Collins algorithm is not. We note that Morton and Collins concur with these conclusions.
Multiple recombination events are responsible for the heterogeneity of α+‐thalassemia haplotypes among the forest tribes of Andhra Pradesh, India
Authors: FODDE R. , HARTEVELD C. L. , LOSEKOOT M. , GIORDANO P. C. , KHAN P. MEERA , NAYUDU N. V. S. , BERNINI L. F. 
Published: September 2007

SUMMAKYThe presence of several polymorphic markers along the α‐globin gene complex allows the identification of haplotypes associated with a‐thalassemia determinants. These are found at very high frequencies in geographic areas where malaria is or has been endemic which suggests a positive selective role by the parasitic disease in favour of α+‐thalassemia mutants. A population survey among forest tribal communities from Andhra Pradesh, India, revealed the prevalence and molecular heterogeneity of α+‐thalassemia determinants presumably due to a long backdated malaria endemicity among these populations. Analysis of the tribal α‐thalassemia haplotypes has shown a great degree of genetic heterogeneity which can be explained as the result of multiple recombination events in the presence of natural selection by malaria.
A genetic reconstruction of the history of the population of the Iberian Peninsula
Authors: BERTRANPETIT J. , CAVALLI‐SFORZA L. L. 
Published: September 2007

SUMMARYThe genetic patterns detectable in human populations of the Iberian Peninsula are shown by means of ‘synthetic genetic maps’, i.e. geographic maps of the highest principal components (PC) of gene frequencies. This method of analysis separates independent patterns of the genetic landscape, which hopefully represents different, major evolutionary events of the past. Among these are clines established by ancient important migrations, and local differentiations of populations due to barriers responsible for relative isolation. Only events of some magnitude from a demographic point of view, involving populations having initially definite genetic differences are detectable by the method. For this to be true, the genetic consequences of these events must not have been entirely smoothed out by later, prolonged genetic exchange between neighbours; but simulations have shown that long clines produced by major migrations can be rather stable in time.The first synthetic map, corresponding to the first PC, shows that the major difference in the Iberian Peninsula is that between people originally of Basque and non‐Basque descent. The recession in time of the boundaries of the Basque‐speaking area seems correlated with the progressive genetic dilution of the Basque genotype in modern populations, as we move away from the centre of the Basque area. Clearly there must have been a close relationship in the progressive loss of the Basque language and increasing genetic admixture with neighbours. Most probably, Basques represent descendants of Paleolithic and/or Mesolithic populations and non‐Basques later arrivals, beginning with the Neolithic.The second synthetic map is correlated with early Neolithic infiltrations from the eastern edge of the Pyrenees. It has been shown by archaeologists that, in some areas, early Neolithics lived side by side at overlapping dates with well developed Mesolithics. The demographic impact of Neolithic farmers versus Mesolithics, and therefore their genetic influence was thus less important in the Iberian Peninsula than in Central Europe.The third synthetic map shows a correlation with the linguistic and historical duality between the Atlantic and the Mediterranean fringes, which developed in the first millennium B.C. and was probably determined, to some extent, by infiltrations through the Pyrenees of the Urnfield cultural elements as well as by several other later events.
Genetic epidemiology of breast cancer in Britain
Authors: ISELIUS L. , SLACK J. , LITTLER M. , MORTON N. E. 
Published: September 2007

SUMMARYA complex segregation analysis was conducted on two British series (one consecutive series of probands with breast cancer and one series ascertained through a normal consultand). Altogether there were 1248 nuclear families with breast cancer. A dominant gene with a frequency of 0‐003 giving a lifetime penetrance of 0‐83 is favoured. Ovarian, endometrial and cancers associated with the SBLA syndrome, as well as benign breast disease, were significantly more common in familial breast cancer than in families of single cases. Probands in families with more than one individual with breast cancer were non‐significantly younger than isolated probands.
Polymerase chain reactions with alphoid‐repeat primers in combination with Alu or LINEs primers, generate chromosome‐specific DNA fragments
Authors: ERICKSON R. P. , GLOVER T. W. , HALL B. K. , WITT M. 
Published: September 2007

SUMMARYY alphoid primers in combination with Alu and LINEs primers generated new DNA fragments in polymerase chain reactions (PCR) on DNA from a Y‐only somatic cell hybrid but not from X‐only, 3‐only, or 21‐only hybrids. X alphoid primers used in a similar manner generated new DNA fragments from the X‐only hybrid, and 1 of the primers (X2) also generated new DNA fragments on 3‐only and 21‐only hybrids when used in conjunction with Alu or LINEs primers. In all but one case, consensus alphoid primers generated new chromosome‐specific fragments in PCR reactions with the Alu or LINEs primers. A search for cryptic Alu‐ or alphoid‐alone PCR products as the source for one Alu‐alphoid band (chosen at random) was negative. Partial sequencing of products demonstrated that alphoid and Alu sequences were indeed contiguous in some newly synthesized DNA fragments. While Alu or LINEs primers generate smears of DNA fragments on total human DNA, the alphoid‐nonalphoid repeat combinations generated electrophoretically distinguishable bands of DNA when the template was total DNA. While these were distinguishable with different chromosome‐specific alphoid primers, the DNA fragments were not of the same sizes as those generated with the chromosome‐only hybrids.
Comparison of asymptotic tests of the Hardy‐Weinberg distribution
Authors: Ginsburg E. Kh. , Axenovich T. I. , Babenko V. N. 
Published: September 2007

SummaryNine asymptotic tests of the Hardy‐Weinberg distribution have been analysed. It is shown that the usual x2 test is the most appropriate one, considering type I and I1 errors.
Dominant genes for colorectal cancer are not rare
Authors: HOULSTON R. S. , COLLINS A. , SLACK J. , MORTON N. E. 
Published: September 2007

SummaryThe genetic basis for colorectal cancer was investigated by complex segregation analysis of a published series of consecutive pedigrees ascertained through patients undergoing treatment for colorectal cancer. Analysis favoured a dominant gene or genes with a frequency of 0·006 with a lifetime penetrance of 0·63. These genes account for 81% of colorectal cancer in patients under 35, however, by 65 about 85% are phenocopies.
Natural selection associated with birth weight. VI. Towards the end of the stabilizing component
Authors: ULIZZI L. , TERRENATO L. 
Published: September 2007

SummaryThe secular trend for stabilizing selection on birth weight has been analysed in Italy from 1954 to 1985 in order to study changes in the forces of natural selection which have occurred as a consequence of progress in health care. In previous papers we demonstrated a very rapid relaxation of stabilizing selection on birth weight. In this paper we show that in the last few years this kind of selection has been coming to an end for the vast majority of Italian newborns.
The effect of mutation on linkage disequilibrium
Authors: CAROTHERS A. D. , WRIGHT A. F. 
Published: September 2007

SummaryThe standard formula for the approach to linkage equilibrium between two diallelic loci, initially at disequilibrium, is expressed in terms of their probability of recombination (Li, 1955). By a simple extension, we show how to incorporate the effects of mutation at one or both loci. It can thereby be inferred that in general these effects are unlikely to be of major importance, contrary to some recent suggestions.
Regional localization of the intestinal mucin gene MUC3 to chromosome 7q22
Authors: FOX M. F. , LAHBIB F. , PRATT W. , ATTWOOD J. , GUM J. , KIM Y. , SWALLOW D. M. 
Published: September 2007

SummaryThe gene MUC3 which codes for a mucin expressed in intestine (Gum et al. 1990) has previously been mapped, using somatic cell hybrids, to chromosome 7. We describe here the regional localization of MUC3 to chromosome 7q22 by in situ hybridization. Preliminary linkage analysis using CEPH (Centre d'Étude du Polymorphisme Humain) families supports this assignment and places MUC3 in the same linkage group as COL1A2 and CFTR.
Disequilibrium of multiple DNA markers on the human Y chromosome
Authors: PERSICHETTP F. , BLASI P. , HAMMER M. , MALASPINA P. , JODICE C. , TERRENATO L. , NOVELLETTO A. 
Published: September 2007

SummaryWe characterized four DNA polymorphisms on the Y chromosomes of 123 males from five Caucasian populations. Three markers on the male specific portion of the chromosome varied appreciably in frequency among the populations. When combined, these markers define a limited number of haplotypes compared with the maximum expected on the basis of random association. The associations found in the five groups are qualitatively similar and are thus considered to be relatively stable on an evolutionary time‐scale and possibly to predate the divergence of Caucasian populations. However, the haplotype frequencies varied markedly among populations, even between weakly isolated areas such as northern vs. southern Sardinia. This may indicate rapid progression towards fixation of alternative types of Y chromosomes.We also report data suggesting that the same associations no longer hold when examining a marker as close as 275 bp from the boundary of the pseudoautosomal region on the Y chromosome.
Testing the Hardy‐Weinberg law across strata
Authors: OLSON J. M. 
Published: September 2007

SummaryThe problem of testing the Hardy‐Weinberg law when data are sampled from several populations with different allele frequencies is considered. An Odds‐ratio representation of disequilibrium is proposed. This ration is assumed to be constant across strata, an assumption that seems more reasonalbe than that of previous authors of a constant difference in true and expected (undre equilibrium) heterozygote proportions. A score‐type test which optimally combines information from the separate strata is then drived using the theory of unbiased estimating equations. Simulations show that the new test has greater power than previously proposed tests when the disequilibrium ratio is constant across strata. The method is applied to glyoxable genotype data form populations in India.