Abstract:
:Male and female sibs born to third-cousin parents presented with mental retardation, microcephaly, short stature, juvenile onset limb-girdle muscular dystrophy and multiple chromosome mosaicism in lymphocytes and fibroblasts. Different aneuploidies (mostly trisomies) were found in 15-20% of the cells and trisomies for chromosome 8 and chromosome 7 predominated in lymphocytes and fibroblasts respectively, while monosomies were rare. Increased cellular death due to aneuploidy could explain symptoms such as mental and growth retardation and microcephaly. This could be an instance of an autosomal recessive mitotic mutant, possibly affecting a protein simultaneously involved in spindle apparatus and muscle function.
journal_name
Ann Hum Genetjournal_title
Annals of human geneticsauthors
Papi L,Montali E,Marconi G,Guazzelli R,Bigozzi U,Maraschio P,Zuffardi Odoi
10.1111/j.1469-1809.1989.tb01791.xsubject
Has Abstractpub_date
1989-07-01 00:00:00pages
243-8issue
3eissn
0003-4800issn
1469-1809journal_volume
53pub_type
杂志文章abstract::The reported associations between HLA antigen DR3 and null (QO) alleles at the C4A and C4B loci and systemic lupus erythematosus are here analysed. The empirical logistic method has been applied to a body of data which included the relevant genotypes. The analysis suggests that the association with null alleles at the...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1986.tb01942.x
更新日期:1986-01-01 00:00:00
abstract::For many complex diseases, study has suggested that the disease genes influence not only the occurrence of the disease, but also the age of onset. Current methods in linkage analysis are mainly concentrated on affected relative pairs or affected family members, and age of onset information is either ignored or is take...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1046/j.1469-1809.1998.6240323.x
更新日期:1998-07-01 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
pub_type: 杂志文章
doi:10.1111/ahg.12116
更新日期:2015-07-01 00:00:00
abstract::The polygenic threshold model assumes that the distribution of the underlying liability is approximately normal. This paper examines the impact of deviations from normality in the underlying liability distribution when the number of loci affecting liability is finite, but large (e.g. 5-10). Skewness and kurtosis of th...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1986.tb01941.x
更新日期:1986-01-01 00:00:00
abstract::Parkinson disease (PD) is a chronic neurodegenerative disorder with a cumulative prevalence of greater than one per thousand. To date three independent genome-wide association studies (GWAS) have investigated the genetic susceptibility to PD. These studies implicated several genes as PD risk loci with strong, but not ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2009.00560.x
更新日期:2010-03-01 00:00:00
abstract::Cystic fibrosis is a common autosomal recessive disorder that primarily affects the epithelial cells in the intestine, respiratory system, pancreas, gall bladder and sweat glands. Over one thousand mutations have currently been identified in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene that are ...
journal_title:Annals of human genetics
pub_type: 杂志文章,评审
doi:10.1046/j.1469-1809.2003.00028.x
更新日期:2003-09-01 00:00:00
abstract::To investigate patterns of diversity and the evolutionary history of Eurasians, we have sequenced a 2.8 kb region at Xp11.23 in a sample of African and Eurasian chromosomes. This region is in a long intron of CLCN5 and is immediately flanked by a highly variable minisatellite, DXS255, and a human-specific Ta0 LINE. Co...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1046/j.1529-8817.2003.00115.x
更新日期:2004-09-01 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
pub_type: 历史文章,杂志文章
doi:10.1111/ahg.12075
更新日期:2014-09-01 00:00:00
abstract::Klippel-Trenaunay syndrome (KTS) is a congenital vascular disorder comprised of capillary, venous and lymphatic malformations associated with overgrowth of the affected tissues. In this study, we report the identification of a de novo supernumerary ring chromosome in a patient with mild mental retardation, long taperi...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1046/j.1529-8817.2004.00095.x
更新日期:2004-07-01 00:00:00
abstract::A genome-wide association study of serum uric acid (SUA) laevels was performed in a relatively isolated population of European descent from an island of the Adriatic coast of Croatia. The study sample included 532 unrelated and 768 related individuals from 235 pedigrees. Inflation due to relatedness was controlled by ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2011.00698.x
更新日期:2012-03-01 00:00:00
abstract::The CACH/VWM syndrome is an autosomal recessive leukodystrophy characterized by a broad spectrum of clinical presentations and by diffuse cavitary degeneration of the white matter on MRI. Mutations responsible for this disorder are missense or frameshift mutations occurring in the five genes (EIF2B1-5) that encode the...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2007.00427.x
更新日期:2008-05-01 00:00:00
abstract::The marriages contracted between 1600 and 1850 in the parishes Vang and Slidre in the mountain valley of Valdres in Norway were investigated, using the information in the genealogical and local history of the parishes and in various public archives. The parishes functioned as a marriage isolate, in spite of regular co...
journal_title:Annals of human genetics
pub_type: 历史文章,杂志文章
doi:
更新日期:1977-05-01 00:00:00
abstract::We determine the power of variance component linkage analysis in the case of discrete, dichotomous traits analyzed under a classical liability threshold model. For simplicity we consider randomly ascertained samples and an additive model of variation incorporating a qtl, residual additive genetic factors, and individu...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1046/j.1529-8817.2004.00128.x
更新日期:2004-11-01 00:00:00
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
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2009.00520.x
更新日期:2009-07-01 00:00:00
abstract::The goal of the present study was to investigate inter-individual and age-dependent variation of global DNA methylation in human tissues. In this work, we examined 5-methyldeoxycytidine ((met)C) content by HPLC in human peripheral blood leukocytes obtained from 76 healthy individuals of ages varying from 4 to 94 years...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1046/j.1529-8817.2004.00081.x
更新日期:2004-05-01 00:00:00
abstract::Uterine fibroids (UFs) are the most common benign neoplasms, but their pathogenesis is not completely understood. Thus far, alterations in the mitochondrial DNA (mtDNA) content and the mtDNA 4977-bp deletion level in UFs, as well as the corresponding nontumorous tissue, have remained elusive. To test whether large mtD...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12303
更新日期:2019-07-01 00:00:00
abstract::The 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'Etude du Polymorphism...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1992.tb01154.x
更新日期:1992-10-01 00:00:00
abstract::Hybrid clones (MOGs) were made between the mouse line RAG and a primary fibroblast line from an individual of the rare alphaGLU 2 phenotype. Fifteen independent primary clones and 32 subclones were tested for the presence of human alphaGLU after separation of the human and rodent enzymes by starch gel electrophoresis....
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1979.tb00661.x
更新日期:1979-01-01 00:00:00
abstract::Phosphoglycolate phosphatase (PGP) exhibits a wide range of activities in normal human red cells. Analysis of blood from 57 individuals of known PGP phenotype revealed no correlation between enzyme activity, electrophoretic phenotype or 2,3-DPG concentration. Neither was there evidence of variation in Km, heat stabili...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1981.tb00313.x
更新日期:1981-05-01 00:00:00
abstract::The Kell blood group locus (KEL) is tightly linked to the prolactin-inducible protein locus (PIP) with zeta = 9.12 at theta = 0.00 for combined paternal and maternal meioses. In view of the regional localization of PIP to 7q32-q36 (Myal et al. 1989a), a similar assignment for KEL is favoured. ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1991.tb00406.x
更新日期:1991-05-01 00:00:00
abstract::Traditional quantitative trait locus (QTL) analysis focuses on identifying loci associated with mean heterogeneity. Recent research has discovered loci associated with phenotype variance heterogeneity (vQTL), which is important in studying genetic association with complex traits, especially for identifying gene-gene a...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12089
更新日期:2015-01-01 00:00:00
abstract::In a Muslim Arab village, relatively isolated because of the preference of consanguineous marriages, we studied the fate of 12 mutations in 5 different genes. The study was based on carriers detected among relatives of affected patients and of carriers discovered in a random sample of 424 adults. Most of the mutations...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2006.00308.x
更新日期:2007-03-01 00:00:00
abstract::Previous analyses have provided evidence for one or more loci affecting body weight in the H19-IGF2-INS-TH region on chromosome 11p15. To identify the location of a possible causal locus or loci we applied association analysis by composite likelihood to a large cohort under the Malecot model for body weight. A random ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2006.00290.x
更新日期:2006-11-01 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
pub_type: 杂志文章
doi:10.1046/j.1529-8817.2003.00077.x
更新日期:2004-03-01 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
pub_type: 杂志文章
doi:10.1046/j.1469-1809.1998.6250431.x
更新日期:1998-09-01 00:00:00
abstract::The CATHGEN study reported associations of chromosome 3q13-21 genes (KALRN, MYLK, CDGAP, and GATA2) with early-onset coronary artery disease (CAD). This study attempted to independently validate those associations. Eleven single nucleotide polymorphisms (SNPs) were examined (rs10934490, rs16834817, rs6810298, rs928923...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2009.00540.x
更新日期:2009-11-01 00:00:00
abstract::To detect linkage between a trait and a marker, Morton (1955) proposed to calculate the lod score z(theta 1) at a given value theta 1 of the recombination fraction. If z(theta 1) reaches +3 then linkage is concluded. However, in practice, lod scores are calculated for different values of the recombination fraction bet...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1995.tb01610.x
更新日期:1995-01-01 00:00:00
abstract::Alpha2-HS glycoprotein (AHSG), which is equivalent to fetuin in other species, is a protein found in human plasma. AHSG is polymorphic with two common alleles and many variants. To examine the intragenic haplotypes and their diversity at this locus, a contiguous genomic DNA sequence (10.3 kb) was analyzed in 20 sample...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1046/j.1469-1809.2001.6510027.x
更新日期:2001-01-01 00:00:00
abstract::Epidemiological evidence on gene-environment effects of the G-protein beta-3 subunit C825T polymorphisms and sodium on blood pressure in the free-living general population is limited. We examined the associations between the C825T polymorphism and blood pressure levels, stratified by the sodium variables estimated by ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2006.00276.x
更新日期:2006-11-01 00:00:00
abstract::The routine performance of high-altitude (HA) natives in the hypoxic environment of HA exemplifies the process of adaptation mainly through natural selection. The recent therapeutic application of nitric oxide (NO) in HA disorders, for the improvement of oxygenation and vasodilation, ushered us to investigate the endo...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1046/j.1529-8817.2005.00158.x
更新日期:2005-05-01 00:00:00