bluuebunny/crossref_metadata_2025_split huggingface dataset:
Characteristics of simple sibship variance tests for the detection of major loci and application to height, weight and spatial performance
Authors: Fain P. R. 
Published: September 2007

SummarySimple methods have been proposed as screening tests for major loci. These methods rely primarily upon the detection of differences in within sibship variances expected for segregating and non‐segregating sibships when a major locus is present. In the present study, computer simulation was used to investigate power and robustness of the test statistics. Power of the analyses depends upon the specific major locus model, but, in general, their application is quite practical for small samples. The test statistics were shown to be sensitive to deviations from normality, but robust under the conditions of either a polygenic or environmental model. Application of the test procedures to sibship data from the Boulder Family Study led to significant results for a three‐dimensional spatial rotation test, but results for height and weight were non‐significant. The simplest interpretation of the results for the spatial performance test wasin tcrms of a sex‐linked major locus.
Partial trisomy 13 presumably due to recombination in an inversion heterozygote and by unequal crossing‐over
Authors: KOSKE‐WESTPHAL THEA , PRUSZAK‐SEEL ROSWITH E. , NISS R. , PASSARGE E. 
Published: September 2007

SUMMARYTwo unrelated infants with partial trisomy 13 for the distal half of the long arm are described. In one, a familial pericentric inversion is present in three generations and crossing‐over in the inversion loop is considered as cause of partial trisomy 13. The other showed a tandem duplication of the distal half of the long arm of chromosome 13 beyond 13q14. This is interpreted to have arisen by unequal crossing‐over in mispaired synapsis.It is suggested that recombination rather than breaks is a distinctive although rare cause of human chromosomal imbalance.
A possible mutation of a fluorescence polymorphism
Authors: ROBINSON J. A. , BUCKTON K. E. , EVANS H. J. , ROBSON E. B. 
Published: September 2007

SUMMARYThe segregation of the Q‐band polymorphisms in 32 families have been studied. From 90 matings in these families, there were a total of 208 offspring. In one of these offspring it could be shown that there had been a change of a fluorescent polymorphism, resulting in the loss of fluorescent intensity in the satellite of a chromosome 21. The origin of such a ‘mutation’ and a consideration of mutation rates is discussed.
Genetic linkage relation of the pepsinogen Pg5 locus
Authors: KORSNES L. , T. GEDDE‐DAHL Jr.  , OLAISEN B. , THORSBY E. , OLVING J. , SIVERTS A. , BRATLIE A. 
Published: September 2007

SummaryLinkage relations between pepsinogen Pg5 and 28 genetic marker loci have been analyzed in Norwegian families. No strong hint of linkage was found. Linkage to Pg5 in males has been ruled out below 25% recombination for HLA and GPT, below 20% recombination for Rh, PGM1, ACP, Gc, MNSs, PGM3, and Gm and Pi, below 15% recombination for Hp, below 10% recombination for Fy, ABO, C3 and Jk and below 4% for Kell, Tf, C6, Km and Le(Se). Possibilities of loose linkages include Pg5‐C6 and Pg5‐MNSs, both of which should be followed up.
The applicability of the Hardy‐Weinberg principle in the study of populations
Authors: SCHAAP T. 
Published: September 2007

SummaryThe applicability of the Hardy‐Weinberg principle in the analysis of a theoretical population under directional selection is assessed. It can be shown that the analysis of genotype frequencies by the conventional method can never reveal the existence of directional forces. Consequently, a population actually in transient polymorphism may seem to be either in Hardy‐Weinberg equilibrium or subject to balancing or disruptive forces. Therefore, population studies should not be based on genotype frequencies at a single point in time.
Biochemical genetics of the pentose phosphate cycle: human ribose 5‐phosphate isomerase (RPI) and ribulose 5‐phosphate 3‐epimerase (RPE)
Authors: SPENCER N. , HOPKINSON D. A. 
Published: September 2007

Summary1. Staining procedures are described for the detection after starch‐gel electrophoresis of ribose‐5‐phosphate isomerase (RPI) and ribulose 5‐phosphate 3‐epimerase (RPE).2. Both RPI and RPE were detected in all human tissues including red cells, lymphocytes and fibroblasts.3. No evidence was found for more than one structural gene locus for either enzyme.4. NO allelic variants of either enzyme were found in erythrocyte lysates from over 200 unrelated individuals.5. Preliminary data are presented which suggest that differences in tissue RPE isozyme patterns may be due to endogenous proteolytic activity.6. Electrophoretic analysis of RPE and RPI isozyme patterns in extracts of man/mouse hybrid cells indicates that RPE is probably a dimer and RPI may also be polymeric.
Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen→9p22
Authors: SPARKES R. S. , SPARKES M. C. , FUNDERBURK S. J. , MOEDJONO S. 
Published: September 2007

SummaryDetermination of activity and electrophoretic mobility of GALT in patients with various chromosome 9 deletions and duplications confirms the assignment of its locus to 9p and suggests its locus is in the segment 9cen→p22. Two inversions of 9qh (inv(9)(pllql2)) did not alter GALT expression.
Assignment of a human diaphorase (DIA4) to chromosome 16
Authors: POVEY S. , WILSON D. , EDWARDS Y. H. 
Published: September 2007

SummaryA human FAD‐dependent diaphorase, DIA4, has been studied in 29 independent human‐rodent hybrids and in 17 subclones. The results suggest that the locus DIA, is on chromosome 16.
On tune deafness (dysmelodia): frequency, development, genetics and musical background
Authors: KALMUS H. , FRY D. B. 
Published: September 2007

Summary143th the aid of the Distorted Tunes Test a group of British adults could be established whose melodic aptitude was below a certain level and whom we called tune deaf. They are only a fraction of those popularly called tone deaf. The Distorted Tunes Test is only slightly correlated with pitch discrimination, short term tonal memory or number memory. In children ability to pass the Distorted Tunes Test develops at greatly varying speeds and to a varying degree, reaching stability in adolescence. Tune deafness has a familial distribution and segregates in away suggesting an autosomsl dominant brait with imperfect penetrance. Some degree of positive assortatire mating has been established.
A two locus model for juvenile diabetes
Authors: THOMSON GLENYS 
Published: September 2007

SummaryAs stated before, the aim of this analysis was t o determine if a two locus plus environment disease model for IDDX mould give predicted values of various population parameters in agreelllent with observed values, or whether the model could be ruled out by obvious discrepancy between sonie predicted and observed values. It is assumed that the HLA linked ‘;disease’ allele D, follows a recessive mode of inheritance, with an allele frequency of approximately 357;. The results show that the addition of a second ‘disease’ locus gives predicted values that, are certainly not in disagreement with observed values. This in no way proves that this is the mechanism operating with IDDN but certainly makes it a feasible possibility.The discrepancies with observed population parameters of the one locus plus environment dominant and recessive models, plus the discrepancy between concordance rate in monozygous twins and incidence in sibs of probands, plus the observations of association of the Lewis blood group with IDDX, provide evidence in favour of the present two locus model. At the moment no real distinction can be made as t o whether it is more likely that the hypothesized second ‘disease’ locus would follow a dominant or recessive mode of inheritance.A further point of interest from the study by Vague et al. (1978) is the demonstration that not only IDDSI but also maturity onset diabetes shows an association with the Lewis negative blood group. This opens up exciting possibilities concerning the relationship of the two diseases. It may be that susceptibility to maturity onset diabetes is determined either solely by one locus (D2) or by D, plus other loci, plus environmental effects, while susceptibility to IDDM is determined by two (or possibly more) loci (D1 and D,) plus environmental effects. The observation by MacDonaltl(1974) of an equal incidence of maturity‐onset diabetes among the ancestors of juvenile‐diabetics and non‐diabetics would argue against such an hypothesis. However, further investigation of this question is called for in view of Vague et al (1978) observation.Obserx‐ations from the mouse are also supportive of the involvement of more than one locus in determining the degree of severity of diabetes. Coleman (1978) states that in the mouse, ‘The severity and clinical course of the diabetes produced depends on the interaction of the mutant, gene with the inbred background rather than the action of the gene itself. Thus on one genetic background a well‐compensated, maturity onset type diabetes, compatible with nearnormal life is observed whereas on another inbred background the syndrome presents as a juvenile‐type diabetes with insulinopenia, islet cell degeneration, marked hyperglycaemia, sonie ketosis and a much shoxtened lifespan.’ I n these studies the diabetic ‘disease’ locus being studied follows a recessive mode of inheritance and ‘the modifiers leading to islet hypertrophy and well‐compensated diabetes compatible with a near normal lifespan are dominant to those factors causing severe diabetes’ (Coleman, 1978).
Polymorphism of human C5
Authors: HOBART M. J. , GUEDES M. A. VAZ , LACHMANN P. J. 
Published: September 2007

SUMMARYC5 is polymorphic in Melanesians and related peoples. The polymorphism is demonstrated by isoelectric focusing and functional detection. Inheritance is autosomal and codominant. Preliminary linkage data suggest that C5 is not close to HLA.
Activity of adenosine deaminase allelic forms in intact erythrocytes and in lymphocytes
Authors: BATTISTUZZI G. , IUDICONE P. , SANTOLAMAZZA P. , PETRUCCI R. 
Published: September 2007

SUMMARYThe distribution of ADA activity has been studied for ADA 1 and ADA 2‐1 individuals in intact and lysed erythrocytes and in lymphocyte lysates.ADA activity in intact RBC is 20‐30% lower than in lysates, in lymphocytes it is 10 times higher.The difference between ADA 1 and ADA 2‐1 mean enzyme activities which we previously described in RBC lysates has been found also in intact RBC and in lymphocyte lysates.
Natural selection associated with birth weight I. Selection intensity and selective deaths from birth to one month of life
Authors: TERRENATO L. , GRAVINA M. F. , ULIZZI L. 
Published: September 2007

SUMMARYDifferential mortality as a function of birth weight was studied up to the 4th week of life in all single births in Italy in 1974.

Both selection intensity and selective mortality are much higher with increasing immaturity.
For babies born at term or after 8 months of pregnancy selection intensity tends io relax as early as one week after birth, while for those born after 7 months selection is at work for a longer period.
Selective mortality, on the other hand, keeps increasing after birth but its relevance is relatively decreasing since average mortality after birth continues to decrease.
New genetic variants of glucose 6‐phosphate dehydrogenase (G6PD) in Italy
Authors: SANSONE G. , PERRONI L. , TESTA U. , MARENI C. , LUZZATTO L. 
Published: September 2007

SUMMARYSix new variants of human erythrocyte G6PD have been characterized. All of them were found in Italian males and all were associated with enzyme deficiency, but only two with signs of haemolysis. These and other variants reported in the literature, which must thus far be regarded as sporadic, are found to map in parts of Italy where common types of G6PD deficiency are also prevalent.
Mapping by gene dosage, using aneuploid human lymphoid cell lines
Authors: SOOS M. , SHADE M. , BELL H. , MOXLEY M. , STEEL C. M. 
Published: September 2007

SUMMARYHuman lymphoblastoid cell lines evolve in vitro by the emergence of successive waves of clones which are often chromosomally marked. This offers the opportunity to compare tissue samples of the same genetic origin but differing in certain defined parts of the karyotype.Using selected sets of lines in which the members of genetically matched pairs differed in the number of copies of 8p or of 12p, levels of GSR and LDH B respectively have been shown to correlate with the specific chromosome aberrations, supporting existing data on the regional assignment of these two structural loci.This approach represents a useful addition to established methods for human gene mapping.
Growth, DNA repair, sister chromatid exchange and chromosome studies in fibroblasts fromHuntington's disease patients
Authors: DELHANTY J. D. A. , PARRINGTON J. M. , CASEY G. , ATTWOOD J. , WEST L. , KIRK D. , CORNEY G. 
Published: September 2007

SUMMARYFibroblast cultures from six unrelatedHuntington's Disease (HD) patients and controls and one affected relative of an HD patient were used in studies of cell growth, DNA repair, sister chromatid exchange (SCE) and chromosome aberrations.There were no significant differences in background levels of SCEs or of chromosome aberrations between HD cultures and controls.Preliminary results using epidermal growth factor indicated that HD cells may have a lowered relative response to this polypeptide hormone.Cell growth studies showed no correlation between growth rate and HD.Increased cell saturation density was recorded in cell lines from four of the HD patients; the remaining three lines from affected individuals (two of them related) were indistinguishable from control cultures. This variation may reflect genetic heterogeneity in HD.An apparent deficiency in DNA repair capacity following UV irradiation in cultures from three HD patients was subsequently shown to be the result of the increased cell saturation densities in these cultures.
Family studies on nucleoside phosphorylase and the short arm of chromosome 14
Authors: COOK P. J. L. , ROBSON E. B. , ROGERS P. A. , NOADES J. E. , BUCKTON K. E. , WATSON A. R. 
Published: September 2007

SUMMARYA family with two nucleoside phosphorylase‐deficient patients has been scored for the segregation of NP0 and the variable region 14p. The most likely 14p: NP recombination fraction is (M5 in males and 0–30 in females.There is no family data to assign the Pi:Gm linkage group to chromosome 14, but as immunoglobulin heavy chain has been assigned to this chromosome by somatic cell methods the most likely gene order is 14p:NP: Pi:Gm with Pi in 14q2 and Gm in 14(q23 →q32), but the order 14p:NP:Gm:Pi with Pi in 14(q24 → qter) and Gm in 14(q22 → q24) is not excluded.The available linkage data between biochemical markers on acrocentric chromosomes and their short arm markers suggest that there may be more recombination towards the ends of human chromosomes whether or not those ends carry centromeres.
HLA genotype distribution and genetic models of insulin‐dependent diabetes mellitus
Authors: SVEJGAARD A. , RYDER L. P. 
Published: September 2007

SUMMARYWhen comparing the odds ratios (OR's) obtained by contrasting various HLA‐DR phenotypic classes in patients (e.g. diabetics) and controls, it is desirable to use the same reference phenotypes for all OR's. If this is done, it can be shown that the OR for, say, DR3/4, heterozygotes cannot exceed the OR's for both of the two homozygotes (DR3/3 and DR4/4), if there is one disease susceptibility locus with one normal allele and one susceptibility allele in linkage disequilibrium with two HLA‐DR alleles {HLA‐DR3 and 4) and if the action of the susceptibility gene is dominant, recessive or intermediate between dominant and recessive. In each of these cases, the OR for the heterozygotes will be intermediate between the OR's of the two homozygotes. If the two alleles at the susceptibility locus act in an overdominant way, the OR for the heterozygotes may in some cases exceed the OR's of both homozygotes. Comparison of the magnitude of two OR‐values can be reduced to investigating whether the OR value generated by comparing one phenotypic class against the other (as reference group) differs from unity. There is suggestive but not conclusive evidence that the OR of developing insulin‐dependent diabetes for the DR3/4 genotype is higher than the corresponding OR‐values for both of the two homozygotes (DR3/3 and DR4/4), indicating that the susceptibility to this disease may not be explained by a dominant, recessive or intermediate model.
Confirmation of linkage between antithrombin III and Duffy blodd group and assignment of AT3 to 1q22 → q25
Authors: WINTER J. H. , BENNETT B. , WATT J. L. , BROWN T. , ROMÁN C. SAN , SCHINZEL A. , KING J. , COOK P. J. L. 
Published: September 2007

SUMMARYLinkage studies on two families segregating for antithrombin III deficiency confirm the linkage between AT3 and the Duffy blood group. The maximum lod score including two published families is +4.2 at recombination fractions around 0.1. Two patients with deletions of 1q have 1/2 levels of antithrombin III suggesting that the AT3 locus lies in bands 1 q22 → 1q25.
The genetic relationship between the human foetal acetylesterase ESA7 and the adult acetylesterase ESA5
Authors: HOPKINSON D. A. , GRIFFITHS J. A. , EDWARDS Y. H. 
Published: September 2007

SUMMARY

There are very few clear examples among human enzymes of foetal isozymes which are the products of foetal specific gene loci. Earlier studies had pointed to the foetal brain esterase ESA7, as a probable example.
Detailed biochemical investigation of partially purified human adult brain ESA5 and the foetal esterase ESA7 has revealed a close resemblance in the biochemical properties of these two isozymes. In addition to similarities in substrate specificity and inhibition sensitivity the two esterases have the same molecular size (c. 57000), are both relatively unstable at 37 d̀C and show decreased anodal electrophoretic mobility after storage at 20 d̀C. Furthermore there was suggestive evidence that ESA7 and ESA5 may be interconvertible.
A variant esterase isozyme pattern, which shows unusual features of both ESA7 and ESA5, was found in a survey of 120 foetal brains. This variant pattern is consistent with a monomeric structure for both esterases and points strongly to a common genetic determination.
Mapping studies on human mitochondrial glutamate oxaloacetate transaminase
Authors: JEREMIAH S. J. , POVEY S. , BURLEY M. W. , KIELTY C. , LEE M. , SPOWART G. , CORNEY G. , COOK P. J. L. 
Published: September 2007

SUMMARYData from six primary hybrids and twenty‐two subclones have confirmed the assignment of the mitochondrial form of glutamate oxaloacetate transaminase to chromosome 16. Family studies have provided independent confirmation of this and have suggested the gene order PGP‐16qh‐GOT2‐HP. These studies were made easier by the development of a new stain for the detection of GOT activity.
Studies on the genetic and non‐genetic (physiological) variation of human erythrocyte glutamic oxaloacetic transaminase
Authors: WURZINGER K. H. , MOHRENWEISER H. W. 
Published: September 2007

SUMMARYThe thermostability profile of seven different electrophoretic variants of human erythrocyte GOT found in 13 different, unrelated families from a racially heterogeneous population was examined. The five different slow‐variant and the two different fast‐variant classes could be grouped into four different thermostability classes which were termed unstable, less stable, normal and more stable than normal. The thermostability differences among and within the electrophoretic variant classes permitted differentiation of the 13 individusals possessing an electrophoretic variant phenotype into a total of ten different variants.
Genetic polymorphism of coagulation factor XIIIB subunit in Japanese
Authors: NAKAMURA S. , ABE K. 
Published: September 2007

SUMMARYGenetic polymorphism of coagulation factor XIIIB subunit in Japanese has been described, using thin‐layer agarose gel isoelectric focusing followed by immunofixation.Phenotypes of factor XIIIB subunit were essentially classified into three common patterns A, B and AB. It is estimated that the phenotypes are determined by two codominant alleles. A new rare variant B' has been detected in Japanese.Gene frequencies calculated from 304 individuals showed FXIII‐BA=0.735, FXIII‐BB= 0.252 and FXIII‐BB'= 0.013, respectively. The distribution of phenotypes fitted the Hardy‐Weinberg equilibrium.
The use of fluorogenic peptide substrates for the detection of coagulation factors II and X after electrophoresis
Authors: BOARD P. G. 
Published: September 2007

SummaryThe use of synthetic oligopeptides with a fluorescent detector group for the localization of thrombin and activated factor X activity after electrophoresis is described. This new technique provides high specificity and resolution. This approach to the detection of blood coagulation factors II and X can be extended to other factors, where their specific peptide cleavage sequence is known.
A monoclonal antibody recognizing a cell surface antigen coded for by a gene on human chromosome 17
Authors: BAI Y. , SHEER D. , HIORNS L. , KNOWLES R. W. , TUNNACLIFFE A. 
Published: September 2007

SummaryThe monoclonal antibody, H207, raised against the human T‐cell‐derived acute lymphoblastic leukaemia line HSB‐2, recognizes an antigen of apparent molecular weight 125000 which is coded for by the gene, MIC6, on chromosome 17. Assignment was based on the pattern of reactivity with a panel of somatic cell hybrids. In particular, two hybrids containing only human chromosome 17 or a human translocation chromosome t(3;17) (3pter‐3p11::17p11–17qter) respectively bound H207, whilst their revertands did not. The H207 antigen has a general tissue distribution but is not found on B‐cell lines and is lacking from some T‐cell lines.
Estimating genetic and non‐genetic components of variance for fasting glucose levels in pedigrees ascertained through non‐insulin dependent diabetes
Authors: BEATY T. H. , FAJANS S. S. 
Published: September 2007

SummaryFasting glucose levels measured on 337 individuals in 14 pedigrees ascertained through a proband with non‐inuslin dependent diabetes were used to estimate genetic and non‐genetic components of variance under a multifactorial model of inheritance. In this sample genetic factors were important in controlling variation in basal carbohydrate metabolism, as represented by age‐adjusted log‐fasting glucose. There was no evidence that arbitrary sib common environments or arbitrary parent common environments accounted for significant portions of the variability in fasting glucose in these data. An arbitrary environment shared by parent and offspring, however, had a marginally significant impact on the likelihood.Parameter estimates obtained from multifactorial models analysed in this manner are sensitive to extreme phenotypic values, however, and caution must be exerciese in estimating total genetic variation. While additive genetic factors did account for a significant proportion of the total variation in fasting glucose, a large proportion remained unexplained.
Isozymes of rodent 5‘‐nucleotidase: evidence for two independent structural loci Umph‐1 and Umph‐2
Authors: Swallow D. M. , Turner V. S. , Hopkinson D. A. 
Published: September 2007

SummaryTwo distinct isozymes (UMPH‐1 and UMPH‐2) which hydrolyse pyrimidine 5′‐nucleotides have been identified in mouse, rat and Chinese hamster tissues. One of these, UMPH‐1 appears to be specific for pyrimidine 5′‐nucleotides, whereas the other, UMPH‐2 has a broader substrate specificity. UMPH‐1 and UMPH‐2 show differences in their expression in different tissues. The evidence suggests that UMPH‐1 and UMPH‐2 are coded by distinct structural gene loci, UMPH‐1 and UMPH‐2. These isozymes have not been identified in man, and it is suggested that they may have overlapping electrophoretic mobility.