Assignment of the human locus determining phosphoglycolate phosphatase (PGP) to chromosome 16.

abstract：:Archaeological, anthropological and pathological data suggest that thirteen skeletons found in a house at the Pompeii archaeological site, dated to 79 A.D., belong to one family. To verify this and to identify the relationships between these individuals, we analyzed DNA extracted from bone specimens. Specifically, hyp...

journal_title：Annals of human genetics

authors： Di Bernardo G,Del Gaudio S,Galderisi U,Cascino A,Cipollaro M

更新日期：2009-07-01 00:00:00

abstract：:The tissue distribution of the adenylate kinase isozymes in man has been examined using various substrates. The isozymes attributable to the AK1 and AK2 loci were identified, and an additional set of isozymes probably attributable to a third locus was also found. This locus has been provisionally designated AK3. The A...

journal_title：Annals of human genetics

authors： Wilson DE,Povey S,Harris H

更新日期：1976-01-01 00:00:00

abstract：:Complex segregation analysis was conducted in a series of patients with hereditary non-polyposis colorectal cancer (HNPCC) ascertained through probands registered in the Cancer Registry of the Health Care District of Modena in Northern Italy. Altogether there were 71 nuclear families segregating for HNPCC in 28 pedigr...

journal_title：Annals of human genetics

authors： Scapoli C,Ponz De Leon M,Sassatelli R,Benatti P,Roncucci L,Collins A,Morton NE,Barrai I

更新日期：1994-07-01 00:00:00

abstract：INTRODUCTION:Limb-girdle muscular dystrophy (LGMD) is the fourth most common muscular dystrophy, with progressive proximal muscle weakness. However, a large number of neuromuscular conditions are similarly presented. Because of this, the use of high-throughput methods such as next-generation sequencing (NGS) is importa...

journal_title：Annals of human genetics

authors： Özyilmaz B,Kirbiyik Ö,Özdemir TR,Kaya Özer Ö,Kutbay YB,Erdogan KM,Güvenç MS,Kale MY,Gazeteci H,Kiliç B,Sertpoyraz F,Diniz G,Baydan F,Gençpinar P,Dündar NO,Yiş U

更新日期：2019-09-01 00:00:00

abstract：:Sherman et al. (1984) concluded from a cytogenetic and genetic analysis of families with the marker (X) syndrome that the rate of the mutation leading to this syndrome is extraordinarily high (7.2 X 10(-4) in male germ cells), and that these mutations occur exclusively in male germ cells. It is shown by some model cal...

journal_title：Annals of human genetics

authors： Vogel F

更新日期：1984-10-01 00:00:00

abstract：:Dyslexia is a complex gene-environment disorder with poorly understood etiology that affects about 5% of school-age children. Dyslexia occurs in all languages and is associated with a high level of social and psychological morbidity for the individual and their family; approximately 40-50% have persistent disability i...

journal_title：Annals of human genetics

authors： Schulte-Körne G,Ziegler A,Deimel W,Schumacher J,Plume E,Bachmann C,Kleensang A,Propping P,Nöthen MM,Warnke A,Remschmidt H,König IR

更新日期：2007-03-01 00:00:00

abstract：:Using the Succession Rule of Laplace (1795) and related reasoning, this paper shows how to give unbiased counselling to patients when predictions are to be based on small samples. The recombination fraction can be regarded as a probability parameter, theta, which itself has a probability distribution between the limit...

journal_title：Annals of human genetics

authors： Renwick JH

更新日期：1990-10-01 00:00:00

abstract：:The original transmission disequilibrium test (TDT), was introduced to test for linkage between a marker and a disease-susceptibility locus (Spielman et al. 1993). Allison (1997) extended the TDT procedure to quantitative traits. Allison's test, however, is restrictive in that it requires family trios consisting of on...

journal_title：Annals of human genetics

authors： Xiong MM,Krushkal J,Boerwinkle E

更新日期：1998-09-01 00:00:00

abstract：:This palaeogenetic study focused on the analysis of a late prehispanic Argentinean group from the Humahuaca valley, with the main aim of reconstructing its (micro)evolutionary history. The Humahuaca valley, a natural passageway from the eastern plains to the highlands, was the living environment of Andean societies wh...

journal_title：Annals of human genetics

authors： Mendisco F,Keyser C,Seldes V,Rivolta C,Mercolli P,Cruz P,Nielsen AE,Crubezy E,Ludes B

更新日期：2014-09-01 00:00:00

abstract：:We have studied the impact of natural selection through stillbirth on the Italian population, taking into account the socio-economic heterogeneity of the country. The results suggest that older age at delivery and lower cultural level of the mothers, indicators of critical biological and socio-economic conditions, eve...

journal_title：Annals of human genetics

authors： Zonta LA,Astolfi P,Ulizzi L

更新日期：1997-03-01 00:00:00

abstract：:The available simple mapping functions are surveyed, and a new mapping function that provides for positive interference within chromosome arms and no interference across the centromere is proposed, together with the corresponding formula for centromeric linkage. This new function is derived by assuming that all chromo...

journal_title：Annals of human genetics

authors： Sturt E

更新日期：1976-11-01 00:00:00

abstract：:Apparently identical twin boys are both XX/XY and have two populations, A1 and B, of cells in their peripheral blood. Chimerism in somatic tissue outside the blood cells can be demonstrated in only one of the twins. From analysis of chromosomes and many gene markers the mechanism of origin of the unusual twins remains...

journal_title：Annals of human genetics

authors： Iselius L,Lambert B,Lindsten J,Tippett P,Gavin J,Daniels G,Yates A,Ritzén M,Sandstedt B

更新日期：1979-10-01 00:00:00

abstract：:Two closely linked structural loci, D and 'CcEe', are proposed as the basis of the Rh blood groups. Mutation and unequal crossing-over between the two loci at meiosis are considered as possible explanations for some rare Rh complexes. The theory predicts that complexes arising from unequal crossing-over would be expec...

journal_title：Annals of human genetics

authors： Tippett P

更新日期：1986-07-01 00:00:00

abstract：:In order to study the matrilineal genetic composition in Cabo Verde (Republic of Cape Verde), an archipelago that used to serve as a Portuguese entrepôt of the Atlantic slave trade, we have analysed a total of 292 mtDNAs sampled from the seven inhabited islands for the hypervariable segment I (HVS-I) and some characte...

journal_title：Annals of human genetics

authors： Brehm A,Pereira L,Bandelt HJ,Prata MJ,Amorim A

更新日期：2002-01-01 00:00:00

abstract：:Polymorphisms of the promoter region (-108C/T) and the coding region (192Q/R) of the paraoxonase 1 gene (PON1) showed differences in association with cardiovascular disease risk in various populations. To characterize the genetic variation underlying these important polymorphisms, we examined DNA sequence variation bo...

journal_title：Annals of human genetics

authors： Koda Y,Tachida H,Soejima M,Takenaka O,Kimura H

更新日期：2004-03-01 00:00:00

abstract：:1. Further investigation of fumarase using lymphoblastoid cells derived from an individual of the FH 2--1 phenotype has confirmed that the mitochondrial (FHM) and soluble (FHS) forms of fumarase are determined at the same structural locus. 2. The FH 2--1 variant is associated with enzyme deficiency: c. 70% of normal i...

journal_title：Annals of human genetics

authors： Edwards YH,Hopkinson DA

更新日期：1979-10-01 00:00:00

abstract：:Inbreeding patterns over the past two centuries have been studied more extensively in Spain and Italy than anywhere else in Europe. Consanguinity studies in mainland Spain have shown that populations settled along the Cantabrian cornice share inbreeding patterns that distinguish them from other populations further sou...

journal_title：Annals of human genetics

authors： Calderón R,Aresti U,Ambrosio B,González-Martín A

更新日期：2009-03-01 00:00:00

abstract：:The equilibrium position is determined for the phenotypic distribution o f 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 particular...

journal_title：Annals of human genetics

authors： Wilson SR

更新日期：1978-01-01 00:00:00

abstract：BACKGROUND AND PURPOSE:Individuals with slow N-acetylation phenotype often experience toxicity from drugs such as isoniazid, sulfonamides, procainamide, and hydralazine, whereas rapid acetylators may not respond to these medications. The highly polymorphic N-acetyltransferase 2 enzyme encoded by the NAT2 gene is one of...

journal_title：Annals of human genetics

authors： Al-Ahmad MM,Amir N,Dhanasekaran S,John A,Abdulrazzaq YM,Ali BR,Bastaki S

更新日期：2017-09-01 00:00:00

abstract：:Families segregating for PEPD have been investigated for linkage between PEPD and CYP1. The results provide evidence for close linkage between PEPD and CYP1 in males. ...

journal_title：Annals of human genetics

authors： Davis MB

更新日期：1987-01-01 00:00:00

abstract：:Linkage between the Scianna blood group and the Rhesus blood group has been confirmed. Families demonstrating recombinants between U M P K and Sc suggest that U M P K lies between Sc and PGM1. ...

journal_title：Annals of human genetics

authors： Noades JE,Corney G,Cook PJ,Putt W,King J,Fisher RA,Spowart G,Lee M,Bowell PJ

更新日期：1979-10-01 00:00:00

abstract：:Fourteen triploid spontaneous abortuses were studied cytogenetically by sequential Q and C banding and the marker chromosomes were compared with those of the parents. The abortuses comprised all triploid cases in a series of 288 consecutive abortuses of the first 16 weeks of pregnancy occurring in one hospital. In 12 ...

journal_title：Annals of human genetics

authors： Lauritsen JG,Bolund L,Friedrich U,Therkelsen AJ

更新日期：1979-07-01 00:00:00

abstract：:A study has been made of 36 body and 11 craniofacial measurements in a selected sample of 251 Bulgarian families, comprising parents and their children over 15 years. The mid parent-offspring and correlation coefficients indicate that the extent of genetic determination varies considerably from one measurement to anot...

journal_title：Annals of human genetics

authors： Nikolova M

更新日期：1996-11-01 00:00:00

abstract：:Case-parent triad data are considered a robust basis for studying association between variants of a gene and a disease. Methods evaluating statistical significance of association, like the TDT-test and its extensions, are frequently used. When there are prior hypotheses of a causal effect of the gene under study, howe...

journal_title：Annals of human genetics

authors： Gjessing HK,Lie RT

更新日期：2006-05-01 00:00:00

abstract：:Acromesomelic dysplasia Maroteaux type (AMDM) is an autosomal recessive skeletal disorder characterized by disproportionate short stature with shortening of the acromesomelic sections of the limbs. AMDM is caused by mutations in the NPR2 gene located on chromosome 9p21-p12. The gene encodes the natriuretic peptide rec...

journal_title：Annals of human genetics

authors： Irfanullah,Umair M,Khan S,Ahmad W

更新日期：2015-07-01 00:00:00

abstract：:Research suggests pulse pressure (PP) is a predictor of cardiovascular disease, and genes likely influence PP levels. Additionally, gender may be an effect modifier between PP and cardiovascular disease. This study addresses whether two renin-angiotensin-aldosterone system (RAAS) variants are associated with PP in a s...

journal_title：Annals of human genetics

authors： Lynch AI,Arnett DK,Davis BR,Boerwinkle E,Ford CE,Eckfeldt JH,Leiendecker-Foster C

更新日期：2007-11-01 00:00:00

abstract：:Co-segregation studies based on a selection of intragenic restriction fragment length polymorphisms of the low density lipoprotein receptor (LDLR) gene have been used extensively both for research and diagnostic studies of familial hypercholesterolaemia (FH) families, because direct mutation screening remains complex....

journal_title：Annals of human genetics

authors： Haddad L,Day LB,Attwood J,Povey S,Humphries SE,Day IN

更新日期：1997-11-01 00:00:00

abstract：:As knowledge of the human genome continues to grow, more progress is being made towards not only identifying the genes involved in disease susceptibility but also in defining the synergistic role genes play with environmental exposures. The detection of gene-environment interactions is important as it can offer clinic...

journal_title：Annals of human genetics

authors： Lake SL,Laird NM

更新日期：2004-01-01 00:00:00

abstract：:We have determined the chromosomal location of the human cardiac/slow skeletal muscle troponin C gene (TNNC1) to the short arm of chromosome 3 using somatic cell hybrids. PCR-based analysis of a 'monochromosomal' hybrid panel identified the presence of the TNNC1 gene on human chromosome 3 and subsequent analysis of th...

journal_title：Annals of human genetics

authors： Townsend PJ,Yacoub MH,Barton PJ

更新日期：1997-07-01 00:00:00

abstract：:Typically genetic studies of continuous traits such as cholesterol levels or blood pressure assume that interindividual variability follows a normal distribution. Here we develop methods to analyze positively skewed data by assuming a lognormal distribution. We develop a variance components approach for identifying su...

journal_title：Annals of human genetics

authors： Wan Y,De Andrade M,Yu L,Cohen J,Amos CI

更新日期：1998-11-01 00:00:00