Abstract:
:A previous analysis of mtDNA variation in the Caucasus found that Indo-European-speaking Armenians and Turkic-speaking Azerbaijanians were more closely related genetically to other Caucasus populations (who speak Caucasian languages) than to other Indo-European or Turkic groups, respectively. Armenian and Azerbaijanian therefore represent language replacements, possibly via elite dominance involving primarily male migrants, in which case genetic relationships of Armenians and Azerbaijanians based on the Y-chromosome should more closely reflect their linguistic relationships. We therefore analyzed 11 bi-allelic Y-chromosome markers in 389 males from eight populations, representing all major linguistic groups in the Caucasus. As with the mtDNA study, based on the Y-chromosome Armenians and Azerbaijanians are more closely-related genetically to their geographic neighbors in the Caucasus than to their linguistic neighbors elsewhere. However, whereas the mtDNA results show that Caucasian groups are more closely related genetically to European than to Near Eastern groups, by contrast the Y-chromosome shows a closer genetic relationship with the Near East than with Europe.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Nasidze I,Sarkisian T,Kerimov A,Stoneking Mdoi
10.1007/s00439-002-0874-4keywords:
subject
Has Abstractpub_date
2003-03-01 00:00:00pages
255-61issue
3eissn
0340-6717issn
1432-1203journal_volume
112pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::Germline mutations of the adenomatous polyposis coli ( APC) gene cause familial adenomatous polyposis (FAP), an autosomal, dominantly inherited disease that predisposes patients to colorectal cancer. The APC gene is composed of 15 coding exons and encodes an open reading frame of 8.5 kb. The 3' 6.5 kb of the APCopen r...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0758-7
更新日期:2002-07-01 00:00:00
abstract::Sanfilippo syndrome type B (mucopolysaccharidosis IIIB) is a rare autosomal recessive disorder characterized by the inability to degrade heparan sulfate because of a deficiency of the lysosomal enzyme alpha-N-acetylglucosaminidase (NAGLU). We performed mutation screening in a group of 20 patients, identyifing 28 mutat...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390000429
更新日期:2000-12-01 00:00:00
abstract::The consanguinity of parents (born in France) of individuals who have a recessive disease has been studied. The frequency of first cousin marriages is less than 0.2% in the general French population. Among the parents of affected individuals the following frequencies of first cousin matings were observed: cystic fibro...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00527398
更新日期:1977-09-22 00:00:00
abstract::Therapies for Duchenne muscular dystrophy (DMD) must first be tested in animal models to determine proof-of-concept, efficacy, and importantly, safety. The murine and canine models for DMD are genetically homologous and most commonly used in pre-clinical testing. Although the mouse is a strong, proof-of-concept model,...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-019-01976-z
更新日期:2019-05-01 00:00:00
abstract::In this preliminary study, non-invasive infrared thermography has been used to visualize individual sweat pores and whole body skin temperature patterns in subjects with X-linked hypohidrotic ectodermal dysplasia (XHED) and normal controls. The findings in eight obligate heterozygotes and four affected males were comp...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00205164
更新日期:1990-11-01 00:00:00
abstract::The genetic types of the properdin factor B were analyzed by isoelectric focusing on polyacrylamide gels and subsequent immunofixation. Sera from 516 unrelated, healthy individuals from Southern Germany were examined. Two new subtypes of the Bf*S allele were observed. They were provisionally named Bf*Sb1 and Bf*Sb2(b ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00293880
更新日期:1984-01-01 00:00:00
abstract::Autosomal dominant nonsyndromic hearing loss (ADNSHL) is a highly genetically heterogeneous disorder. Up to date only approximately 37 ADNSHL-causing genes have been identified. The goal of this study was to determine the causative gene in a five-generation Chinese family with ADNSHL. A Chinese family was ascertained....
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1885-0
更新日期:2018-04-01 00:00:00
abstract::Only two genome-wide association (GWA) screens have been published for melanoma (Nat Genet 47:920-925, 2009; Nat Genet 40:838-840, 2008). Using a unique approach, we performed a genome-wide association study in 156 related melanoma cases from 34 high-risk Utah pedigrees. Genome-wide association analysis was performed ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-011-1048-z
更新日期:2012-01-01 00:00:00
abstract::Assigning a pathogenic role to mitochondrial DNA (mtDNA) variants and unveiling the potential involvement of the mitochondrial genome in diseases are challenging tasks in human medicine. Assuming that rare variants are more likely to be damaging, we designed a phylogeny-based prioritization workflow to obtain a reliab...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-015-1615-9
更新日期:2016-01-01 00:00:00
abstract::The noninvasive method presented, using an "air culturing" technique, is capable of enriching for fetal cells in lymphocyte cultures of maternal blood. Through a combination of Y-body fluorescence and chromosomal heteromorphisms in the maternal blood, the fetal cells can be detected and used for the prenatal diagnosis...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00282176
更新日期:1988-08-01 00:00:00
abstract::Concomitance of four fragile sites (at 16p13, 16q22, 16q23, Yq12) in the lymphocyte cultures of two brothers is reported. The expression of each of these fragile sites was enhanced (or induced) by different culture conditions. Some of the inducing conditions are already known and others are reported here for the first...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278791
更新日期:1986-09-01 00:00:00
abstract::The identification of marker chromosomes in clinical and tumor cytogenetics by chromosome banding analysis can create problems. In this study, we present a strategy to define minute chromosomal rearrangements by multicolor fluorescence in situ hybridization (FISH) with "whole chromosome painting" probes derived from c...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00420933
更新日期:1993-12-01 00:00:00
abstract::We have studied the effects of cocultivation on the frequency of mitomycin C (MMC)-induced chromosomal aberrations. This was carried out by cocultivating Fanconi anemia (FA) cells from the genetic complementation groups A and B with both normal mouse lymphoma L5178Y cells and the derived "FA-like" mutant cells, MCN-15...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210801
更新日期:1990-05-01 00:00:00
abstract::We identified two informative polymorphisms in the transcribed 3' untranslated region of the tumor necrosis factor receptor 2 (TNFR2) gene using the polymerase chain reaction (PCR) with the single-strand conformation polymorphism (SSCP) technique. These polymorphisms demonstrated Mendelian inheritance and were useful ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00201604
更新日期:1994-10-01 00:00:00
abstract::We have screened fourteen kindreds with X-linked hypophosphataemic rickets with four microsatellite markers, viz AFM163yh2, DXS999 (AFM234yf12), DXS443 and DXS365, in order to refine the genetic map flanking the gene, and to define a close flanking interval for the construction of a yeast artificial chromosome (YAC) a...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00212025
更新日期:1994-03-01 00:00:00
abstract::We have observed a T-->C mutation at position +96 of the untranslated region 3' to the terminating codon of the beta-globin gene in members of two Czech families and one black family. Data from initial studies suggested that this change was the cause of a beta-thalassemia, but continued analyses have provided convinci...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00218918
更新日期:1994-01-01 00:00:00
abstract::ISLR2 (immunoglobulin superfamily containing leucine-rich repeat 2), encodes a protein involved in axon guidance in brain development (hence the other name leucine-rich repeat domain- and immunoglobulin domain-containing axon extension proteins; LINX). A recently described mouse knockout displays hydrocephalus. Howeve...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1963-3
更新日期:2019-01-01 00:00:00
abstract::We identified eight candidate thinness predisposition variants from the Illumina HumanExome chip genotyped on members of pedigrees selected for either healthy thinness or severe obesity. For validation, we tested the candidates for association with healthy thinness in additional pedigree members while accounting for e...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-015-1629-3
更新日期:2016-02-01 00:00:00
abstract::A well defined polymorphism of vitamin D-binding/group-specific component (GC) residues in exon 11. To characterize the molecular basis of GC*1A2 and GC*1A3, common in some Asian populations, we analyzed all coding exons amplified by the polymerase chain reaction. GC*1F was divided into GC*1FC and GC*1FT by a C-T tran...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00223861
更新日期:1995-05-01 00:00:00
abstract::Intracellular phenylalanine and tyrosine was determined in lymphocytes of 10 heterozygotes (parents) for PKU and in 26 randomly collected apparently normal persons. In cells from the heterozygotes the concentrations of both phenylalanine and tyrosine were higher than in those from the normals, the difference being sta...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00569353
更新日期:1979-07-18 00:00:00
abstract::DNA samples from 60 unrelated Belgian hypercholesterolemic patients were subjected to heteroduplex analysis of exon 4 of the low density lipoprotein receptor (LDLR) gene. Aberrant mobility bands were detected in 2 patients and the underlying mutations were characterized by DNA sequence analysis. Both mutations, a 19-b...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00191796
更新日期:1995-10-01 00:00:00
abstract::Muenke syndrome, also known as FGFR3-associated coronal synostosis, is defined molecularly by the presence of a heterozygous nucleotide transversion, c.749C>G, encoding the amino acid substitution Pro250Arg, in the fibroblast growth factor receptor type 3 gene (FGFR3). This frequently occurs as a new mutation, manifes...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-004-1151-5
更新日期:2004-08-01 00:00:00
abstract::With rapid developments in genomic and digital technologies, genomic data sharing has become a key issue for the achievement of precision medicine in South Korea. The legal and administrative framework for data sharing and protection in this country is currently under intense scrutiny from national and international s...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-018-1920-1
更新日期:2018-08-01 00:00:00
abstract::Molecular characterization of a ring chromosome 14 was carried out in a patient with the 46,XX,r(14) karyotype. The breakpoints shown by chromosome banding were within bands p11 and q32. Using molecular probes for the immunoglobulin heavy chain (IGH), D14S1 and PI loci located at 14q32, we showed that the IGH and D14S...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291158
更新日期:1989-06-01 00:00:00
abstract::A case of trisomy 6p21 leads to 6pter resulting from a maternal balanced t(2;6)(p25;p21) translocation is reported. The main clinical abnormalities were psychomotor retardation, hypotrophy, blepharophimosis, nystagmus, high nasal bridge, small mouth, sacral dimple, and systolic murmur. Other anomalies might have been ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00273268
更新日期:1979-04-17 00:00:00
abstract::A female infant with total monosomy 21 identified by Q banding is described. The main clinical features were hypertonia, prominent occiput, hypertelorism, antimongoloid slant of the eyes, broad nose, "antimongoloid", character of dermatoglyphics. Both parents are phenotypically as well as karyotypically normal. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00270866
更新日期:1976-03-12 00:00:00
abstract::A case of partial trisomy 9 is described in a mentally retarded and dysmorphic child, confirming that this chromosome unbalance results in a characteristic clinical entity. This trisomy arose through aberrant segregation of translocation chromosome during meiosis in the patient's mother, who is a balanced heterozygote...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00447289
更新日期:1976-07-07 00:00:00
abstract::Common variable immunodeficiency (CVID, OMIM 240500) and selective immunoglobulin A deficiency (IgAD) are the most frequent primary immunodeficiencies in humans. Of the cases with CVID/IgAD, 20%-25% are familial, but the only previous claims of linkage or association are to the HLA region on chromosome 6p. We report t...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-002-0890-4
更新日期:2003-04-01 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::An apparently different chromosome abnormality was observed in unstimulated blood cultures from an acute non-lymphocytic leukemic child: 11q- with G banding techniques and 17q- with R banding techniques. The abnormality is explained as a t(11;17) translocation, and the discrepancy between the G- and R-band patterns di...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278862
更新日期:1981-01-01 00:00:00