bluuebunny/crossref_metadata_2025_split huggingface dataset:
Linkage analysis of the nevoid basal cell carcinoma syndrome
Authors: ANDERSON DAVID E. 
Published: September 2007

SummaryTwelve pedigrees were informative for linkage between the gene locus for the nevoid basal cell carcinoma syndrome and the ABO, MNS, Rh, P, Kell, Lewis, Ddy, and Kidd blood group marker loci. Linkage with a recombination fraction less than θ= 0.1 was unlikely for any marker locus. The most favourable of the possible loose linkages, that between the syndrome locus and Rh locus, showed a 12% probability of linkage when the prior odds against two autosomel loci being on the same chromosome were taken into account. The other marker loci manifested probabilities averaging about 3%.
A study of faecal porphyrin levels in a large family
Authors: COCHRANE A. L. , GOLDBERG A. 
Published: September 2007

SummaryA large family in which a case of hepatic porphyria of the porphyria variegata type occurred has been defined and traced, and the faecal porphyrins measured for 160 out of 151 of the living members, The limitations of the present tests in discovering latent cases and in determining the mode of inheritance are discussed.
A ǵene‐countinǵ method of maximum likelihood for estimating ǵenefrequencies in ABO and ABO‐like systems*
Authors: YASUDA NORIKAZU , KIMURA MOTOO 
Published: September 2007

SUMMARYA gene‐counting method of maximum likelihood is elaborated for estimating gene frequencies in ABO and ABO‐like systems (more generally phenogram m‐[(m2‐m+2)/2]‐1). The present method has the advantages that the calculations in each iterative cycle is simple and that it is not necessary to invert the matrix, although more iterative cycles are needed than with the scoring method in order to attain to the same level of accuracy. Also, the problem of choosing appropriate trial values is discussed and several numeric examples are worked out.
An investigation of the difference in measured intelligence between twins and single births*
Authors: RECORD R. G. , McKEOWN THOMAS , EDWARDS J. H. 
Published: September 2007

SUMMARYMean V.R. (verbal reasoning) scores recorded in the eleven‐plus examination for Birmingham multiple births in the years 1950‐57 were 95‐7 for 2164 twins and 91‐6 for 33 triplets. The mean for 48,913 single children born in the years 1950‐54 was 100‐1.The low scores of twins are not explained by differences from single births in their distributions by maternal age and birth order or by birth weight and duration of gestation. They are also not accounted for by the increased risks associated with monozygosity (assessed by comparison of like‐ and unlike‐sex twins) or with delivery of the second twin. Taken together these observations, like the previous ones on single births, suggest that variation in experience before and during birth has little influence on measured intelligence and that the explanation of the large difference between twins and single children must be sought in the postnatal environment.There were 148 twins whose co‐twins were stillborn or died within 4 weeks after birth; their mean score was 98‐8, only a little lower than that of single births (99‐5) standardized to the maternal age and birth rank distribution of twins. From this evidence it is concluded that the handicapping of twins, reflected in their low verbal reasoning scores, is due to postnatal rather than prenatal influences.These conclusions are of course based on children who took the eleven‐plus examination and cannot be accepted without reservations for those who did not.
Atypical segregation of human red cell acid phosphatase phenotypes: evidence for a rare ‘silent’ allele Po
Authors: HERBICH J. , FISHER E. A. , HOPKINSON D. A. 
Published: September 2007

SUMMARY1. Aberrant segregation of red cell acid phosphatase phenotypes has been encountered in a large family from Vienna.2. The segregation data suggest the occurrence of a silent allele Po which is associated with either no acid phosphatase or very weak activity.3. Quantitative analysis supports this interpretation since individuals who appear to be heterozygous for Po exhibit approximately half normal red cell acid phosphatase activity.
Fundamental theorem of natural selection in two loci
Authors: ARUNACHALAM V. 
Published: September 2007

SUMMARYExpressions for the various genetic effects in a two locus system are given in terms of the genie and marginal gametic frequencies. The lines of argument leading to an exact expression for the change in mean fitness have been indicated. A set of general conditions is given under which the mean fitness is bound to increase every generation. Two multiplicative loci initially in linkage equilibrium are found to possess this increasing property in addition to two additive loci. The premises in which Fisher's fundamental theorem holds in a two locus system are explored and the results of a recent investigation by Ewens are examined.
The analysis of X‐linkage
Authors: EDWARDS J. H. 
Published: September 2007

SUMMARYThe estimation of the recombination fraction between pairs of loci on the X‐chromosome is discussed, with special reference to the bias from defined forms of ascertainment. Tables are presented which give lods corrected for the common forms of ascertainment.The interpretation of lods is discussed, and the concept of equivalent observations introduced.A simple counting system is described for use in close linkage.
ON THE STABILITY OF ALLELIC SYSTEMS, WITH SPECIAL REFERENCE TO HAEMOGLOBINS A, S and C
Authors: PENROSE L. S. , SMITH SHEILA MAYNARD , SPROTT D. A. 
Published: September 2007

SUMMARYThe conditions of stability for a set of alleles under selection are discussed with special reference to the cases where homozygotes are disadvantageous. The concrete example of alleles which produce different haemoglobins is considered.
EFFECT OF MIGRATION ON SOME GENETICAL CHARACTERS IN SIX ENDOGAMOUS GROUPS IN INDIA
Authors: SIRSAT SATYAVATI M. 
Published: September 2007

SUMMARY1. Blood groups OA1A2B, Rh, taste reaction to phenyl‐thio‐carbamide and colour blindness of the red‐green type have been investigated in six migrant endogamous groups in India. Data for blood group MN have been given for two of the six groups.2. Intra‐ and intergroup variations in these endogamous groups are analysed statistically.3. A comparative survey of some genetic traits between these migrant groups and the original community is given. Significance of the changes in gene frequencies in the estimation of N is discussed.
A CONTRIBUTION TO THE STUDY OF BIRTH WEIGHT BASED ON AN ITALIAN SAMPLE TWIN DATA
Authors: FRACCARO M. 
Published: September 2007

SUMMARYA sample of 237 twin birthB drawn from the records of a maternity clinic has been analysed with regard to birth weight, gestation time, maternal age, parity and survival. The sample was divided into like‐ and unlike‐sex groups. The like‐sex twins have higher mean birth weight and length of gestation with lower mother's age and parity. The correlation of birth weight is 0–765 for like‐sex and 0–792 for unlike‐sex twins. The correlation between male and female twin pairs is 0–826. The number of monozygotic twins in this sample is estimated to be 81 and the estimated weight‐weight correlation for these is 0–815. Comparison has been made possible with similar data on English and Italian twin births published by Karn. The influences of the variables on the survival has been estimated.
LE NOMBRE DE DERMATOGLYPHES DANS UN ECHANTILLON DE JUMEAUX
Authors: LAMY PAR MAURICE , FRÉZAL JEAN , GROUCHY J. de , KELLEY Et Mme J. 
Published: September 2007

RésuméLe nombre total de dermatoglyphes a étéétudié dans un échantillon de 584 paires de jumeaux MZ et DZ.
Le nombre moyen de crêtes est plus grand chez les garçons que chez les filles. Le nombre de crêtes est supérieur à la main droite.
La distribution du nombre de crêtes a été comparée à une distribution gaussienne ajustée. L'asymétrie (skewness) et la kurtosis des distributions ont été mesurées.
Les coefficients de corrélation ont été calculés dans les différents groupes de couples gémellaires pour les mains séparées et pour les deux mains réunies.
La distribution des différences du nombre de cretes a étéétudiée. L'utilisation de cette valeur a été decrite pour le diagnostic de la zygotie des couples de jumeaux.
L'ensemble des résultats a été discuté du point de vue de la détermination génétique des dermatoglyphes.
The genetic structure of a tribal population, the Yanomama Indians V. Comparisons of a series of genetic networks*,†
Authors: WARD RICHARD H. 
Published: September 2007

SUMMARYThe model of Cavalli‐Sforza and Edwards was used to investigate the gentic relationships of thirty‐seven Yanomama villages. Using gene frequency data from eleven genetic systems (MNS, P, Rh, Duffy, Kidd, Diego, Lewis, haptoglobin, Ge, PGM, and acid phosphatase), three hierarchical levels of analysis were carried out. The first level involved in the construction of a gentic network, based on genetic distance between villages, for each of three historically defined clusters of villages. Upon comparing the results with ethnohistory there was shown to be a good agreement between the historical development of a cluster and its genetic network.At the second level of analysis a genetic network was constructed in similar fashion for nineteen villages of the Western Yanomama subgroup, including the three village clusters previously analysed. At this level the integrity of the village clusters was largely maintaine, exceptions being due to specific socio‐political events that resulted in changes of the composition of the village gene pool.The highest level resulted in the construction of a network for all thirty‐seven villages which showed three of the five geographically defined tribal subgroups as distinct entities. The result of these analyses indicate that the model of Cavalli‐Sforza and Edwards can under certain circimstances be used when the requirements of the midel arenot met, and furthermore that the rate of divergence of human populations may approach a steady state at the level of major tribal subgroupings.
Facial and oral form in sibs of children with cleft lip with or without cleft palate
Authors: ERICKSON J. DAVID 
Published: September 2007

SUMMARYThere are measurable differences in the average between the form of the palate in sibs of cleft lip cases (with or without cleft palate) and in the general population. Plausibly there are also differences in the shape of the dental arch and the profile of the face. All these differences are in a biologically reasonable direction. But they are not large enough on their own to allow definite identification of families at risk.
A study of parental age effects on the occurrence of fresh mutations for the Apert syndrome
Authors: ERICKSON J. DAVID , MICHAEL COHEN M. 
Published: September 2007

SUMMARYA sample of 44 patients with the Apert syndrome was analysed for parental age effects on the occurrence of fresh mutations by using two conceptually similar techniques, one proposed by Smith (1972) and the other devised for the purposes of this study. The results of both analyses confirmed the parental age effect reported by Blank (1960), and was probably due solely to increased paternal age.
Human enolase isozymes: electrophoretic and biochemical evidence for three loci
Authors: PEARCE JENNIFER M. , EDWARDS YVONNE H. , HARRIS HARRY 
Published: September 2007

Summary

Four major enolase isozymes have been identified in human tissues and are referred to as L, M, ‘intermediate’ and ‘fast’. The M isozyme is the major form found in skeletal muscle and heart extracts and the L isozyme the major form found in extracts of liver and most other tissues The ‘intermediate’ and ‘ fast’ isozymes are most active in brain but are observed as weak components in most other tissues including heart but are not seen in skeletal muscle. It was observed that during fetal development of heart and skeletal muscle the L form declines in activity while the M form increases in activity.
The kinetic properties, heat stabilities and molecular sizes of the main enolase isozymes have been compared. Although the isozymes share many features in common, the ‘fast’ isozyme is more stable when subjected to heat treatment than either the L or M isozymes. Further, the ‘fast’ isozyme retains its dimeric structure and activity in the absence of magnesium ions while the L and M isozymes dissociate and lose activity. The ‘intermediate’ isozyme has properties which are intermediate to those of the L and ‘fast’ isozymes.
The ‘intermediate’ isozyme can be partially dissociated to equal quantities of L and ‘fast’ isozymes by storage at room temperature or by freezing and thawing in the presence of 2 m‐NaCl. Conversely, mixtures of L with ‘fast’ and M with ‘fast’ give rise to an ‘intermediate’ isozyme after freezing and thawing.
Evidence derived from this study has led to the suggestion that three separate gene loci are involved in the determination of human enolase. It is proposed that one of these, ENO1, determines the L isozyme which is the homodimer αα; another locus, ENO2, determines the ‘fast’ isozyme which is the homodimer ββ; and the third locus, ENO3, determines the M isozyme which is the homodimer γγ. The ‘intermediate’ isozyme seen as a strong component in brain and as a weak component in most other tissues is thought to be the heterodimer αβ. In heart however it is probably mainly βγ.
The social effect of Huntington's Chorea on reproductive effectiveness
Authors: WALLACE D. C. 
Published: September 2007

SummaryAn attempt has been made to account for the observed departures from a model of a simple single‐locus inheritance in Huntington's Chorea. It is postulated that an indirect effect of the abnormal allele lies in its social effects on individuals in the family group whether they bear the allele or not. This acts by influencing their mate‐finding and reproductive behaviour so as to produce the observed statistical anomalies.
The frequency in Japanese of genetic variants of 22 proteins: IV. Acid phosphatase, NADP‐isocitrate dehydrogenase, peptidase A, peptidase B and phosphohexose isomerase
Authors: TANIS R. J. , UEDA N. , SATOH C. , FERRELL R. E. , KISHI‐MOTO S. , NEEL J. V. , HAMILTON H. B. , OHNO N. 
Published: September 2007

SummaryThis paper presents the results of an electrophoretic survey of approximately 4000 individuals from Hiroshima and Nagasaki for four erythrocyte enzymes: isocitrate dehydrogenase, pepti‐ dase A, peptidase B, and phosphohexose isomerase. Also reported are the results for erythrocyte acid phosphatase for a subset of these individuals. The frequencies for the ACPf and ACPF alleles of the ACP, locus are in agreement with previously reported results from Japanese populations. Rare variants of ICD, PEPA, PEPB and PHI occur with frequencies varying from 0.25 to 7.2 per 1000 determinations. The relatively high frequency of the PHI 4RIR1 variant and some unusual features involving the effect of reducing agent on the electrophoretic pattern behaviour of some of the rare PHI variants detected during this study are discussed.
Satellite associations of human acrocentric chromosomes identified by trypsin treatment at metaphase
Authors: ARDITO G. , LAMBERTI L. , BRØGGER A. 
Published: September 2007

SummaryIn the present work 2526 metaphase plates were prepared from 28 normal adult individuals (123 and 169) and then treated with the trypsin method in order to recognize the acrocentric chromosomes involved in the satellite associations.From our data it can be inferred that while the pattern of association of D‐D, D‐G and G‐G groups seems to be random, there exists some preferential association, particularly between the pairs 13–14, 13‐13, 13–21 and 21‐21.This non‐random participation of the acrocentric chromosomes could fit with the new con‐ cepts of interphase/metaphase organization of the chromatin fibre.The authors wish to thank Professor Chiarelli for helpful suggestions in preparing the present work.
A new model for measuring breeding genetic distance: II. Polygenic traits
Authors: CARLSON ROGER , WELCH Q. B. 
Published: September 2007

SummaryThe breeding genetic distance measure of a single locus (Carlson & Welch, 1977) is extended to polygenic traits. For two populations with means 5 and 2,8(5,2) is defined as thesize of thelargest subpopulation with mean 2 which can be (artificially) selected from a population with mean F. The distance is defined as 1 ‐ O(5, Z). It is shown that 8(X, 2) can be calculated from truncation selection and formulas (two loci) and tables (three and four loci) are given. Values for 8(5,2) based on a normal approximation are seen to be adequate for most cases. The measure is applied to a data example (human skin colour) and to a discussion of the idea of 'genetic inertia'.This research was supported in part by the Child Health and Development Studies, School of Public Health, University of California, Berkeley, CA 94720, NICHHD Grant HD 07256.
Testing a single dominant gene theory without an accepted criterion variable
Authors: GOLDEN R. R. , MEEHL P. E. 
Published: September 2007

SummaryIn testing a single dominant gene hypothesis we often are not able directly to measure the inherited trait. A typical situation is one where we only have one or more fallible indicators of the trait under study. The statistica1 method proposed requires that we have measurements on several such indicators for each of the parents of probands known to possess the trait.
Diabetes mellitus among first‐ and second‐deǵree relatives of early onset diabetics
Authors: DEGNBOL BJARNE , GREEN ANDERS 
Published: September 2007

SummaryThis study is based on a material consisting of all first‐degree relatives and a group of second‐ degree relatives (all nieces and nephews) of 187 propositi affected by early onset (i.e. at or prior to 20 years of age) diabetes mellitus, diagnosed before 1946.The incidence of diabetes among the different groups of relatives is expressed as the risk of developing the disease at specified ages.It is concluded that the risk of siblings or children of early‐onset diabetics developing the same disease is about ten times that of a normal population chosen for comparison, whereas the risk of siblings developing diabetes later in life does not differ from this normal population. On the basis of the data presented here, combined with reanalyses of previously published data from other authors, it is concluded that early onset and late onset diabetes cannot have an identical genetic background.The initial study was proposed by Professor Mogens Hauge, M.D., to whom we are greatly indebted for his valuable help through all phases of the study. We would like to thank Dr Jacob E. Podsen, M.D., for giving access to the files of the Steno Memorial Hospital and for valuable advice concerning clinical problems.We would also like to thank the Danish National Registries and especially Miss Julie Konow, Registry of the Municipality of Copenhagen. During the initial study B. D. received a scholarship from the University of Copenhagen, and the follow‐up study has been made possible by support from the Danish Diabetic Association (Landsforeningen for Sukkersyge) and Dr. med. Erik Garde og Elisabeth Gardes Legat.
Polymorphism of red cell enzymes in Alaskan ethnic groups
Authors: SCOTT EDWARD M. , WRIGHT RITA C. 
Published: September 2007

SUMMARY1. Gene frequencies of esterase D, glyoxalase I and uridine monophosphate kinase in Alaskan populations were determined.2. Improved methods for demonstrating phenotypes of glyoxalase I and uridine monophosphate kinase are presented.3. Rare variants of adenylate kinase (AK1) and diaphorase (DIA) were found. One of the AK1 variants is new.4. Gene frequencies were notably diverse within major ethnic groups. This variability was consistent with a population structure composed of small groups that were relatively isolated from one another.
Asymptotic behaviour of the mean of a continuous phenotypic diffusion process with overlapping generations
Authors: WILSON S. R. 
Published: September 2007

SUMMARYThe equilibrium position is determined for the phenotypic distribution of a continuous characteristic in a population which reproduces both randomly and assortatively, and wherein generations are overlapping. It is shown that the major assortative mating models so far proposed for continuous traits are not particularly satisfactory.
Differences in genetic stability between human cell lines from patients with and without lymphoreticular malignancy
Authors: POVEY S. , JEREMIAH S. , ARTHUR E. , STEEL M. , KLEIN G. 
Published: September 2007

SummaryIsozymes determined by 11 loci have been examined in 137 human lymphoblastoid lines of various origins with a view to determining their phenotypic stability in culture. Lines of normal origin are stable and at these loci are phenotypically identical to the individuals from whom they are derived. Lymphomas and some lines from patients with leukaemias show a tendency to increased apparent homozygosity, presumably resulting from loss of expression of one or other allele during culture. Taken together with the cytogenetic evidence this suggests that progressive loss of functional parts of the genome with time in culture is a characteristic of lines derived from malignant lymphoid cells.
Gene dosage and susceptibility to insulin‐dependent diabetes
Authors: SPIELMAN R. S. , BAKER L. , ZMIJEWSKI C. M. 
Published: September 2007

Summary1. All members of 33 families in which two or more sibs have insulin‐dependent diabetes mellitus (IDDM) were HLA‐typed. The results strongly support the hypothesis that, closely linked to the HLA region, there is a locus (S) for susceptibility to IDDM. We use Sd for alleles at this locus which confer susceptibility to disease, and Sa for all other alleles.2. Published prevalence (recurrence) rates for relatives of an IDDM proband, which are essential for the analysis, are reviewed critically, and a new estimate of prevalence at age 30 in the general population is calculated from published data.3. The analysis allows for greater risk (penetrance) of the genotype SaSd (two doses of Sd) than of SaSd (one dose of Sd) and for recombination between the HLA region and S. With either our own data on 26 affected sib pairs or a much larger sample assembled by pooling with published data, the maximum‐likelihood estimate of the two‐dose penetrance is 71%, of the one dose penetrance 6·5%. The hypothesis of differential penetrance according to gene dosage provides a significantly better explanation than either simple dominant or simple recessive inheritance.4. Estimates of the recombination fraction between HLA and S are very sensitive to the proportion of affected sib pairs sharing neither HLA haplotype, which varies considerably among the samples pooled. With the pooled data the recombination fraction is estimated as 3%, but in view of the strong associations with particular HLA alleles seen in population data, this should probably be considered an upper limit.
Genetical and biochemical studies on human phosphoserine phosphatase
Authors: Moro‐Furlani A. M. , Turner V. S. , Hopkinson D. A. 
Published: September 2007

Summary1. Phosphoserine phosphatase (PSP), specific for D‐and L‐phosphoserine, has been identified in all human tissues.2. PSP shows no activity towards phosphorylated serine residues in phosphoproteins.3. In most tissues, PSP consists of a single major isozyme, probably determined by a single autosomal locus.4. Other isozymes, identified quite frequently in such post‐mortem tissues as kidney and liver, appear to be due to post‐translational modification, the mode of which has not yet been identified.5. Two different rare electrophoretic variants have been identified in 1 % and 0.25 % of 378 post‐mortem kidneys (PSP 2‐1 and PSP 3‐1 respectively).6. The three‐banded isozyme pattern of the rare variants suggests PSP is a dimeric enzyme. From gel filtration results the subunit molecular size is 26 000 daltons.7. Homologous PSP isozymes have been detected in primates with similar electrophoretic mobility to that of the human enzyme.