Abstract:
:Linkage relationships to unassigned and provisionally assigned genetic markers were examined from 53 families segregating for various fragile sites. Fragile sites were at Xq27, 2q13, 6p23, 9p21, 9p32, 10q23, 10q25, 11q13, 11q23, 12q13 and 16p12. No new assignments were made but extensive exclusion data are presented for the markers F13A, F13B, CHE2, K, TF, GPT, C3 and Lu arising from linkage comparisons with fragile sites and other genetic markers. Exclusions of at least 10 cM involving fragile site markers were made for F13A (6p23, 9q32, 10q25), F13B (10q23, 10q25, 16p12), CHE2 (16p12), K (10q23), TF (10q23, 10q25, 11q13), GPT (10q23, 10q25, 11q13), C3 (10q23, 10q25) and Lu (10q25, 11q13).
journal_name
Hum Genetjournal_title
Human geneticsauthors
Mulley JC,Nicholls C,Sutherland GRdoi
10.1007/BF00285035subject
Has Abstractpub_date
1983-01-01 00:00:00pages
79-81issue
1eissn
0340-6717issn
1432-1203journal_volume
65pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::The cell morphology of long-term cultures of amniotic fluid cells from 10 fetuses with a neural tube defect (NTD) and three with omphalocele was examined and compared to 30 long-term cultures of normal amniotic fluids as well as a long-term culture of human fetal brain. Cultures from the amniotic fluids of the fetuses...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00569209
更新日期:1982-01-01 00:00:00
abstract::Beta-2 microglobulin (B2M) is a component of the major histocompatibility complex (MHC) class I molecule and has been studied as a biomarker of kidney function, cardiovascular diseases and mortality. Little is known about the genes influencing its levels directly or through glomerular filtration rate (GFR). We conduct...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1274-7
更新日期:2013-06-01 00:00:00
abstract::A novel human nm23/nucleoside diphosphate (NDP) kinase gene, called nm23-H4, was identified by screening a human stomach cDNA library with a probe generated by amplification by reverse transcription-polymerase chain reaction. The primers were designed from publicly available database cDNA sequences selected according ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050405
更新日期:1997-04-01 00:00:00
abstract::Previous genome-wide association studies (GWAS) have shown several risk alleles to be associated with breast cancer. However, the variants identified so far contribute to only a small proportion of disease risk. The objective of our GWAS was to identify additional novel breast cancer susceptibility variants and to rep...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-011-0973-1
更新日期:2011-10-01 00:00:00
abstract::DNA haplotypes and frameworks (numbers in parenthesis) linked to the beta-globin gene were determined by restriction fragment analysis using eight restriction endonucleases on 86 (97) chromosomes bearing the normal beta-globin gene (HBB*A) and 108 (118) chromosomes bearing HBB*E in subjects homozygous for HBB*A or HBB...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00451464
更新日期:1988-09-01 00:00:00
abstract::Molecular characterization of the alpha-thalassemia mutations present in nine HbH subjects from Cuba was achieved by digestion with Bam HI, Bgl II, and Apa I and hybridization with alpha- and zeta-specific probes. The results show that the molecular basis of the genetic defect is quite homogeneous, all the subjects ca...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00290956
更新日期:1986-04-01 00:00:00
abstract::Six polymorphic restriction enzyme sites in the beta-globin gene cluster were investigated in Yanomama Indians from the Amazon region of Brazil, using the polymerase chain reaction (PCR) technique. Four haplotypes were identified; the haplotype frequency distribution is similar to those reported for Polynesians, Micro...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00221952
更新日期:1992-08-01 00:00:00
abstract::A survey of a number of unselected sera indicated the presence of a variant allele of mitochondrial glutamate-oxaloacetate transaminase (Got2m) in Japanese with appreciable frequency, which was confirmed in white blood cells. The mode of an autosomal codominant inheritance was confirmed by two independent family studi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00275193
更新日期:1984-01-01 00:00:00
abstract::The von Willebrand factor pseudogene, previously mapped to chromosome 22, was sublocalized by in situ hybridization using as probe a von Willebrand factor cDNA fragment completely contained in the pseudogenic region. Chromosome spreads were from a patient carrying a unique balanced de novo translocation 46,X,t(X;22)(p...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00285168
更新日期:1989-10-01 00:00:00
abstract::Three children with hyperphenylalaninaemia and hyperphenylalaninaemic mothers are presented. At least one of the affected children was a compound heterozygote for hyperphenylalaninaemia and phenylketonuria. The families were examined by an L-phenylalanine loading test, by direct determination of phenylalanine hydroxyl...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291569
更新日期:1984-01-01 00:00:00
abstract::The Great Lakes lie within a region of East Africa with very high human genetic diversity, home of many ethno-linguistic groups usually assumed to be the product of a small number of major dispersals. However, our knowledge of these dispersals relies primarily on the inferences of historical, linguistics and oral trad...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-015-1583-0
更新日期:2015-09-01 00:00:00
abstract::Alpha thalassemia retardation associated with chromosome16 (ATR-16 syndrome) is defined as a contiguous gene syndrome resulting from haploinsufficiency of the alpha-globin gene cluster and genes involved in mental retardation (MR). To date, only few cases have been described which result from pure monosomy for a delet...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-007-0399-y
更新日期:2007-11-01 00:00:00
abstract::The delta F508 mutation and cystic fibrosis (CF) haplotypes with the markers KM19, pMP6d-9 and J3.11 are described in 54 adult British CF patients. delta F508 was found on 70% of all CF chromosomes, on none of the normal chromosomes and on only 37.5% of pancreatic sufficient CF chromosomes. All patients with meconium ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02428295
更新日期:1990-09-01 00:00:00
abstract::We present a linkage study in a four-generation autosomal dominant cerebellar ataxia (ADCA) family of Dutch ancestry. The family shows a clinically and genetically distinct form of ADCA. This neurodegenerative disorder manifests in the family as a relatively mild ataxia syndrome with some additional characteristic sym...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0782-7
更新日期:2002-10-01 00:00:00
abstract::The family of diacylglycerol kinases (DAGKs) is known to play an important role in signal transduction linked to phospholipid turnover. In the fruitfly Drosophila melanogaster, a human DAGK ortholog, DGK2, was shown to underlie the phenotype of the visual mutant retinal degeneration A (rdgA). Previously, the gene enco...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050917
更新日期:1999-01-01 00:00:00
abstract::Genetic factors strongly influence risk of common human diseases and treatment outcomes but the causative variants remain largely unknown; this gap has been called the 'missing heritability'. We propose several hypotheses that in combination have the potential to narrow the gap. First, given a multi-stage path from we...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-014-1476-7
更新日期:2014-10-01 00:00:00
abstract::Esterase D levels from 200 retinoblastoma patients have been measured in an attempt to identify individuals carrying deletions of chromosome region 13q14. In this series 75% had bilateral tumours and 23% were familial. Of nine patients identified as having low esterase D levels, five had not previously been diagnosed ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283938
更新日期:1986-02-01 00:00:00
abstract::The centromeric regions of cattle, goat and sheep chromosomes bind anti-5-MeC as revealed by immunofluorescence technique, indicating concentration of 5-MeC at these heterochromatic regions. The centromere of the submetacentric X of cattle remains nearly unstained and so do the centromeres of the acrocentric X chromos...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00270395
更新日期:1976-01-28 00:00:00
abstract::A new mutant alpha-1-antichymotrypsin (variant ACT) was found by polymerase chain reaction single strand conformation polymorphism and direct sequencing. In this variant ACT, two bases (AA) were deleted from codon 391. This resulted in a different amino acid sequence downstream of the deletion point, elongating the pe...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00220480
更新日期:1992-12-01 00:00:00
abstract::The sex-chromosomal origin of the ring chromosome in a pre-pubertal non-virilized female patient presenting with a 45,X/46,X,r(?) karyotype could not be resolved by conventional cytogenetic (including G11) methods. Non-autoradiographic in situ hybridization of biotinylated X and Y centromere-specific alphoid repetitiv...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283735
更新日期:1988-12-01 00:00:00
abstract::Three families with infants affected with campomelic dysplasia, a genetically determined mesenchymal disease frequently associated with sex reversal were studied. Two XY females with ovarian gonadal differentiation and typical clinical features of campomelic dysplasia could be tested for H-Y antigen and were found to ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00271160
更新日期:1981-01-01 00:00:00
abstract::A population study of Gd- allele distribution was made in similar (age-sex) samples of schoolchildren and students from different ethnic groups: Russians, Ashkenazi Jews, and Azerbaijanians. Both the frequency and the spectrum of the Gd- alleles were quite different. The Gd- frequency in Russians (Kostroma region) was...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00281070
更新日期:1987-03-01 00:00:00
abstract::Autosomal dominant familial spastic paraplegias (AD-FSP) are a group of genetically heterogeneous diseases characterised by a progressive spasticity of the lower limbs. Three loci have already been identified by genetic linkage studies on chromosomes 2p, 14q and 15q. Here we present linkage data from a large German fa...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050223
更新日期:1996-09-01 00:00:00
abstract::A linkage analysis has been performed in a large Dutch kindred with progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) using a panel of X-chromosomal RFLPs. Tight linkage (zmax = 3.07 at 0 = theta = 0.00) was demonstrated with the locus for phosphoglycerate kinase (PGK), which is located...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273647
更新日期:1988-12-01 00:00:00
abstract::Complement component 3 (C3) is the central molecule of the complement system. It displays a number of polymorphic variants with, as yet, unclear functional consequences. We have investigated a number of rare C3 variants by PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism) analysis and could ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00197408
更新日期:1995-11-01 00:00:00
abstract::Li-Fraumeni syndrome (LFS) is characterized by a high risk of sarcomas, early onset of breast cancer, and a diversity of other cancers occurring as multiple primary tumors in multiple family members. In many families with LFS, germline mutations within the tumor-suppressor gene p53 have been identified. However, mutat...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050761
更新日期:1998-06-01 00:00:00
abstract::Mutual correction of co-cultivated fibroblasts from patients with Hunter's and Hurler's syndrome could be inhibited by either fructose 1-phosphate or mannose 6-phosphate. In the presence of fructose 1-phosphate a 50% mixture of fibroblasts from a patient with Hunter's syndrome and a normal homozygous individual showed...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00569706
更新日期:1982-01-01 00:00:00
abstract::The sex of a conceptus at the early embryonic state was diagnosed in 1000 induced abortions. Specimens were obtained from women who terminated their pregnancies within 12 menstrual weeks on socio-economic indications. By making use of the triple checking procedures, such as the karyotypic analysis of Giemsa-stained sl...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00446275
更新日期:1977-05-10 00:00:00
abstract::Mutations in the human patched gene have recently been detected in patients with naevoid basal cell carcinoma syndrome. We have characterised a further 5 novel germ line mutations in patients presenting with multiple odontogenic keratocysts. Four mutations cause premature stop codons and one mutation results in an ami...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050541
更新日期:1997-10-01 00:00:00
abstract::The largest class of de novo chromosomal rearrangements in Down syndrome are rea(21q21q). Classically, these rearrangements have been termed Robertsonian translocations, implying an attachment of two different chromosome 21 homologues. Additionally, a Robertsonian translocation between two chromosomes 21 cannot be dis...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00201838
更新日期:1991-02-01 00:00:00