Abstract:
:Hair morphology is a highly divergent phenotype among human populations. We recently reported that a nonsynonymous SNP in the ectodysplasin A receptor (EDAR 1540T/C) is associated with head hair fiber thickness in an ethnic group in Thailand (Thai-Mai) and an Indonesian population. However, these Southeast Asian populations are genetically and geographically close, and thus the genetic contribution of EDAR to hair morphological variation in the other Asian populations has remained unclear. In this study, we examined the association of 1540T/C with hair morphology in a Japanese population (Northeast Asian). As observed in our previous study, 1540T/C showed a significant association with hair cross-sectional area (P = 2.7 x 10(-6)) in Japanese. When all populations (Thai-Mai, Indonesian, and Japanese) were combined, the association of 1540T/C was stronger (P = 3.8 x 10(-10)) than those of age, sex, and population. These results indicate that EDAR is the genetic determinant of hair thickness as well as a strong contributor to hair fiber thickness variation among Asian populations.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Fujimoto A,Ohashi J,Nishida N,Miyagawa T,Morishita Y,Tsunoda T,Kimura R,Tokunaga Kdoi
10.1007/s00439-008-0537-1subject
Has Abstractpub_date
2008-09-01 00:00:00pages
179-85issue
2eissn
0340-6717issn
1432-1203journal_volume
124pub_type
杂志文章相关文献
HUMAN GENETICS文献大全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::Genome-wide association studies (GWAS) have identified a large number of disease-associated SNPs, but in few cases the functional variant and the gene it controls have been identified. To systematically identify candidate regulatory variants, we sequenced ENCODE cell lines and used public ChIP-seq data to look for tra...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-016-1654-x
更新日期:2016-05-01 00:00:00
abstract::The geographical distribution and prevalence of 256 single base-pair substitutions (105 of them being different) within the coding region of the human protein C (PROC) gene were correlated with their initial likelihoods of generation. A significant positive correlation was observed between these "mutational likelihood...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00207369
更新日期:1995-08-01 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::We identified two additional mutations in the ferrochelatase gene in two Swiss patients with erythropoietic protoporphyria (EPP). Ferrochelatase cDNA from patients was amplified by the polymerase chain reaction (PCR) and subjected to mutation analysis by sequencing PCR products either directly or after subcloning. The...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00201578
更新日期:1994-06-01 00:00:00
abstract::This paper summarizes previous chromosomal studies in patients with the Cornelia de Lange syndrome showing abnormal karyotypes. We report on 45 cases of the Cornelia de Lange syndrome clinically examined by one of us (B.B.) and chromosomally studied using several different methods. Two abnormal karyotypes were found: ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00295457
更新日期:1981-01-01 00:00:00
abstract::TransferrinC (TfC) subtypes were determined by isoelectric focusing (PAGIF) on samples from 90 carriers of the TFB and TfD alleles. In all cases of CB and CD heterozygotes only one of the two common subtypes of the TfC allele, TfC1 or TfC2, was observed. This is considered strong support for the hypothesis of two comm...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278905
更新日期:1979-01-19 00:00:00
abstract::Vitamin D inadequacy, assessed by 25-hydroxyvitamin D [25(OH)D], affects around 50% of adults in the United States and is associated with numerous adverse health outcomes. Blood 25(OH)D concentrations are influenced by genetic factors that may determine how much vitamin D intake is required to reach optimal 25(OH)D. D...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-019-02049-x
更新日期:2019-10-01 00:00:00
abstract::A neonate with clinical features of the 11q23 deletion syndrome was apparently mosaic with the dominant cell line showing deletion of the chromosomal segment 11q23.3 to 11qter. The presence of a few lymphocytes with a normal karyotype indicates post-zygotic deletion of chromosome 11. The mother and brother of the prop...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00284923
更新日期:1987-06-01 00:00:00
abstract::Three cases of partial trisomy for the distal segment of chromosome 13 are reported. Common clinical features included normal birth weight, postnatal asphyxia, convulsions, severe psychomotor retardation, normal growth, and a distinct pattern of dysmorphias consisting of trigonocephalic head with prominent metopic sut...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00569970
更新日期:1976-04-15 00:00:00
abstract::The fragile X syndrome is characterized by X-linked mental retardation with additional features such as a long face with large protruding ears, macroorchidism, and eye-gaze avoidance. The disorder is caused by an abnormally expanded CGG repeat within the first exon of the fragile X mental retardation (FMR1) gene that ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050860
更新日期:1998-10-01 00:00:00
abstract::Meiotic segregation of chromosomes 14 and 21 in sperm from a 14;21 Robertsonian translocation carrier was analyzed with dual-color FISH using two locus-specific DNA probes (Tel 14q and LSI 21). The frequency of normal or chromosomally balanced sperm, resulting from alternate segregation, was 88.42%. The frequency of u...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390051027
更新日期:2000-02-01 00:00:00
abstract::The gene locus for hereditary retinoblastoma is on human chromosome 13, band q14. With this gene localization in mind, we cloned DNA fragments from this chromosome. Three of the fragments identify restriction fragment length polymorphisms. These three fragments are from the region 13q12-13q22, the chromosome region wh...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291555
更新日期:1984-01-01 00:00:00
abstract::We recently observed a significantly increased risk for lung cancer in carriers of p53 germline mutations. Because cigarette smoking is known to play an important role in increasing the risk for lung cancer in the general population, we wanted to determine the role of cigarette smoking in lung cancer risk in people wi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-003-0968-7
更新日期:2003-08-01 00:00:00
abstract::A new procedure for determining the chromosomal origin of marker chromosomes has been carried out. The origin of marker chromosomes that were unidentifiable by standard banding techniques could be verified by reverse chromosome painting. This technique includes microdissection, followed by in vitro DNA amplification a...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00201567
更新日期:1994-06-01 00:00:00
abstract::The Na+/H+ antiporter is a ubiquitous membrane-associated protein that plays an important role in the regulation of intracellular pH. APNH, a gene encoding the antiporter, has been cloned and mapped to the short arm of chromosome 1 by in situ hybridization. Using the polymerase chain reaction, we have amplified a 376 ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00205179
更新日期:1990-11-01 00:00:00
abstract::While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsy...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1901-4
更新日期:2018-07-01 00:00:00
abstract::Studies on the segregation of the red blood cell determinant Xg in 12 families with X-linked inheritance of agammaglobulinemia (XLA) in 3-4 generations suggested linkage of Xg with XLA. One extensive pedigree of a Dutch family with XLA in eight generations was investigated for Xg and the quantitative polymorphism 12E7...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00292589
更新日期:1984-01-01 00:00:00
abstract::Phenotypes and gene frequencies are presented for 20 serum and erythrocyte proteins in two Amerindian populations of inner French Guiana. No genetic variability was detected in 12 of these systems. Heterozygosity was calculated for the others and the reasons for its variation are discussed. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00278728
更新日期:1978-12-29 00:00:00
abstract::Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disorder characterised by muscle weakness and wasting. There are two forms of DM; both of which are caused by the expansion of repeated DNA sequences. DM1 is associated with a CTG repeat located in the 3' untranslated region of a gene, DMPK and DM2 with a...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0228-8
更新日期:2006-11-01 00:00:00
abstract::Peutz-Jeghers Syndrome (PJS) is an autosomal dominant hereditary disease characterized by hamartomatous polyposis involving the entire bowel. Recently STK11, a gene bearing a mutation responsible for PJS, was isolated. We investigated the entire coding region of STK11 in 15 unrelated PJS families by the PCR-SSCP (poly...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050801
更新日期:1998-08-01 00:00:00
abstract::In situ hybridization of tritiated cDNA probes for the gene for the B subunit of coagulation factor XIII localized the F13B locus to bands q31-q32.1 on human chromosome 1 and perhaps more precisely to sub-bands 1q31.2 or 1q31.3. Restriction fragment length polymorphisms (RFLPs) were detected with BglII, EcoRI and XbaI...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00293893
更新日期:1989-01-01 00:00:00
abstract::Heritability, the fraction of phenotypic variation explained by genetic variation, has been estimated for many phenotypes in a range of populations, organisms, and time points. The recent development of efficient genotyping and sequencing technology has led researchers to attempt to identify the genetic variants respo...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-012-1199-6
更新日期:2012-10-01 00:00:00
abstract::Using 1.2kb 3'-terminal Pst-I fragment of a full length tissue-type plasminogen activator (t-PA) cDNA clone (ptPA-8FL) and a set of rodent human somatic cell hybrids, the corresponding human gene PLAT was localized on chromosome 8. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283935
更新日期:1986-02-01 00:00:00
abstract::We have used four independently isolated cDNA probes for human apolipoprotein B (apo B), to isolate overlapping genomic recombinants for the 3' portion of the apo B gene. The cDNA clones and a unique fragment from the genomic recombinant have been used to identify the human apo B gene in DNA from a series of rodent X ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00279093
更新日期:1986-08-01 00:00:00
abstract::A continuous increase in the incidence of Down syndrome in Sweden was noted during 1979-1981. This increase mainly occurred among children of younger mothers and was more pronounced for the males than for the females. There was no evidence of a significant seasonal variation, increased frequency of prematurely born ch...
journal_title:Human genetics
pub_type: 杂志文章
doi:
更新日期:1986-02-01 00:00:00
abstract::We propose a Bayesian hierarchical mixture model framework that allows us to investigate the genetic and environmental effects, gene by gene interactions and gene by environment interactions in the same model. Our approach incorporates the natural hierarchical structure between the main effects and interaction effects...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-014-1478-5
更新日期:2015-01-01 00:00:00
abstract::A Monte Carlo simulation procedure was used to estimate the exact level of the standardized X2 test statistic (Xs2) for randomness in the FSM methodology for the identification of fragile sites from chromosomal breakage data for single individuals. A random-number generator was used to simulate 10,000 chromosomal brea...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050596
更新日期:1997-11-01 00:00:00
abstract::In a systematic screening for mutations in the gene encoding the cystic fibrosis transmembrane regulator among Danish cystic fibrosis (CF) patients, we identified a mutation in exon 3 (394delTT); this mutation was found to be relatively common in Denmark. We therefore screened for 394delTT in Sweden and Norway, where ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00210602
更新日期:1994-02-01 00:00:00
abstract::Split hand/foot malformation (SHFM) with long bone deficiency (SHFLD) is a distinct entity in the spectrum of ectrodactylous limb malformations characterised by associated tibial a/hypoplasia. Pedigrees with multiple individuals affected by SHFLD often include non-penetrant intermediate relatives, making genetic mappi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-007-0390-7
更新日期:2007-09-01 00:00:00