当前位置： SCI文献检索 > HUMAN GENETICS期刊下所有文献 > Complete detection of mutations in cystic fibrosis patients of Native American origin.

Complete detection of mutations in cystic fibrosis patients of Native American origin.

Abstract：

:An increased incidence of cystic fibrosis (CF) has been reported in some populations of Native Americans of the Southwest such as the Pueblo, which is a genetic isolate. As the most common mutation found in Caucasians (delta F508) was absent and only one chromosome carried the G542X mutation, we decided to analyze the entire coding sequence of the CFTR gene in eight Pueblo CF patients. We have identified four different mutations: G542X, R1162X, 3849+10kbC-->T, and D648V that account for these 16 haplotypes. The R1162X was found on 11 chromosomes. Using intragenic microsatellites, we have compared the haplotypes of those chromosomes to those of Italian origin where the R1162X mutation was initially reported. These haplotypes turned out to be identical, suggesting a common origin and an admixture with Italian or Spanish settlers, followed by typical founder effect. In contrast the 3849+10kbC-->T mutation, which was found on three chromosomes, is associated with different haplotypes than those on chromosomes carrying the same mutation in Caucasians. A novel mutation, D648V, observed on one chromosome has not been found outside the Pueblo population.

journal_name

Hum Genet

journal_title

Human genetics

authors

Mercier B,Raguénès O,Estivill X,Morral N,Kaplan GC,McClure M,Grebe TA,Kessler D,Pignatti PF,Marigo C

doi

10.1007/BF00206956

subject

Has Abstract,Author List Incomplete

pub_date

1994-12-01 00:00:00

pages

629-32

issue

6

eissn

0340-6717

issn

1432-1203

journal_volume

94

pub_type

杂志文章

相关文献

HUMAN GENETICS文献大全
  • A case of trisomy for the short arm of chromosome no. 9(+9(p)).

    abstract：:A new case of "free" trisomy for the short arm of No. 9 chromosome identified by Giemsa staining and "Giemsa-11 technique" is reported. ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00284440

    authors： Käosaar ME,Mikelsaar AV,Talvik TA,Mikelsaar RV

    更新日期：1976-09-10 00:00:00

  • De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.

    abstract：:Xq28 microduplications of MECP2 are a prominent cause of a severe syndromic form of intellectual disability (ID) in males. Females are usually unaffected through near to complete X-inactivation of the aberrant X chromosome (skewing). In rare cases, affected females have been described due to random X-inactivation. Her...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-014-1469-6

    authors： Fieremans N,Bauters M,Belet S,Verbeeck J,Jansen AC,Seneca S,Roelens F,De Baere E,Marynen P,Froyen G

    更新日期：2014-11-01 00:00:00

  • Two new Bf S subtypes revealed by isoelectric focusing and immunofixation.

    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

    authors： Weidinger S,Schwarzfischer F,Burgemeister R,Cleve H

    更新日期：1984-01-01 00:00:00

  • Apolipoprotein B-100 XbaI gene polymorphism in gallbladder cancer.

    abstract：:Genetic polymorphisms in the apolipoprotein B (apoB) gene have been reported to be associated with altered serum lipids and susceptibility to cholesterol gallstones (GS). Gallstones are among the well-known risk factors for carcinoma of the gallbladder (GBC). In the present study, the association between the XbaI poly...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-003-1056-8

    authors： Singh MK,Pandey UB,Ghoshal UC,Srivenu I,Kapoor VK,Choudhuri G,Mittal B

    更新日期：2004-02-01 00:00:00

  • Alternative splicing in PAX2 generates a new reading frame and an extended conserved coding region at the carboxy terminus.

    abstract：:PAX2 is a member of the PAX multigene family encoding transcription factors active in specific tissues during embryogenesis. Several PAX/Pax genes (PAX and Pax describe homologous genes in human and mice, respectively) have been shown to possess critical morphogenetic functions as identified by the analysis of mice ta...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390050644

    authors： Tavassoli K,Rüger W,Horst J

    更新日期：1997-12-01 00:00:00

  • De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.

    abstract：:Whole exome sequencing (WES) can be used to efficiently identify de novo genetic variants associated with genetically heterogeneous conditions including intellectual disabilities. We have performed WES for 4102 (1847 female; 2255 male) intellectual disability/developmental delay cases and we report five patients with ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-016-1661-y

    authors： Okur V,Cho MT,Henderson L,Retterer K,Schneider M,Sattler S,Niyazov D,Azage M,Smith S,Picker J,Lincoln S,Tarnopolsky M,Brady L,Bjornsson HT,Applegate C,Dameron A,Willaert R,Baskin B,Juusola J,Chung WK

    更新日期：2016-07-01 00:00:00

  • Barrett's oesophagus: an ideal model to study cancer genetics.

    abstract：:Chronic gastro-oesophageal reflux disease can induce a metaplastic change of the distal oesophagus called Barrett's oesophagus whereby the normal squamous epithelium is substituted by a columnar epithelium. Patients with Barrett's oesophagus are at increased risk of oesophageal adenocarcinoma which occurs through dysp...

    journal_title：Human genetics

    pub_type： 杂志文章,评审

    doi：10.1007/s00439-009-0665-2

    authors： di Pietro M,Fitzgerald RC

    更新日期：2009-08-01 00:00:00

  • Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome.

    abstract：:To investigate molecular and clinical aspects of conotruncal anomaly face (CAF), we studied the correlation between deletion size and phenotype and the mode of inheritance in 183 conotruncal anomaly face syndrome (CAFS) patients. Hemizygosity for a region of 22ql1.2 was found in 180 (98%) of the patients with CAFS by ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390050786

    authors： Matsuoka R,Kimura M,Scambler PJ,Morrow BE,Imamura S,Minoshima S,Shimizu N,Yamagishi H,Joh-o K,Watanabe S,Oyama K,Saji T,Ando M,Takao A,Momma K

    更新日期：1998-07-01 00:00:00

  • Sex limited ahaptoglobinaemia.

    abstract：:Hypohaptoglobinaemia and ahaptoglobinaemia occurred in three generations, mainly to male members of a family. Also small amounts of haptoglobin were detected in most of the female relatives. Haemolytic anaemia seemed likely and the glucose 6 phosphate dehydrogenase (G.6.P.D.) activity was normal. The probable genotype...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00294926

    authors： Lefranc G,Lefranc MP,Seger J,Salier JP,Chakhachiro L,Loiselet J

    更新日期：1981-01-01 00:00:00

  • Chromosomes in the Cornelia de Lange syndrome.

    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

    authors： Beck B,Mikkelsen M

    更新日期：1981-01-01 00:00:00

  • Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor).

    abstract：:HPRT Ann Arbor is a variant of hypoxanthine (guanine) phosphoribosyl-transferase (HPRT: EC 2.4.2.8), which was identified in wo brothers with hyperuricemia and nephrolithiasis. In previous studies, this mutant enzyme was characterized by an increased Km for both substrates, a normal Vmax, a decreased intracellular con...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00291707

    authors： Fujimori S,Hidaka Y,Davidson BL,Palella TD,Kelley WN

    更新日期：1988-05-01 00:00:00

  • A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2.

    abstract：:Distal hereditary motor neuropathies predominantly affect the motor neurons of the peripheral nervous system leading to chronic disability. Using whole genome sequencing (WGS) we have identified a novel structural variation (SV) within the distal hereditary motor neuropathy locus on chromosome 7q34-q36.2 (DHMN1). The ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-016-1720-4

    authors： Drew AP,Cutrupi AN,Brewer MH,Nicholson GA,Kennerson ML

    更新日期：2016-11-01 00:00:00

  • Alport syndrome: a genetic study of 31 families.

    abstract：:Thirty one families with Alport syndrome including 3 families with associated syndromes were studied. The location of the COL4A5 gene, responsible for the Alport syndrome, was determined by linkage analysis with eight probes of the Xq arm and by a radiation hybrid panel. Concordant data indicated the localization of t...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00220471

    authors： M'Rad R,Sanak M,Deschenes G,Zhou J,Bonaiti-Pellie C,Holvoet-Vermaut L,Heuertz S,Gubler MC,Broyer M,Grunfeld JP

    更新日期：1992-12-01 00:00:00

  • Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family.

    abstract：:Ehlers-Danlos syndrome (EDS) type I is a generalized connective tissue disorder, the major manifestations of which are soft, velvety hyperextensible skin and moderately severe joint hypermobility. The gene defect or defects causing EDS type I have not yet been defined, but previous observations suggested that the synd...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00206058

    authors： Sokolov BP,Prytkov AN,Tromp G,Knowlton RG,Prockop DJ

    更新日期：1991-12-01 00:00:00

  • X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N4401) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis.

    abstract：:X-linked congenital adrenal hypoplasia (AHC) is a developmental disorder of the human adrenal gland that results in profound hormonal deficiencies, which are lethal if untreated. Hypogonadotropic hypogonadism (HHG) is frequently associated with this disorder. The gene (DAX-1) responsible for the disease has recently b...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390050316

    authors： Schwartz M,Blichfeldt S,Müller J

    更新日期：1997-01-01 00:00:00

  • Sex- and age-dependent DNA methylation at the 17q12-q21 locus associated with childhood asthma.

    abstract：:Chromosomal region 17q12-q21 is one of the best-replicated genome-wide association study (GWAS) hits and associated with childhood-onset asthma. However, the mechanism by which the genetic association is restricted to childhood-onset disease is unclear. During childhood, more boys than girls develop asthma. Therefore,...

    journal_title：Human genetics

    pub_type： 杂志文章,多中心研究

    doi：10.1007/s00439-013-1298-z

    authors： Naumova AK,Al Tuwaijri A,Morin A,Vaillancourt VT,Madore AM,Berlivet S,Kohan-Ghadr HR,Moussette S,Laprise C

    更新日期：2013-07-01 00:00:00

  • Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.

    abstract：:Non-obstructive azoospermia (NOA), the lack of spermatozoa in semen due to impaired spermatogenesis affects nearly 1% of men. In about half of cases, an underlying cause for NOA cannot be identified. This study aimed to identify novel variants associated with idiopathic NOA. We identified a nonconsanguineous family in...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-020-02236-1

    authors： Salas-Huetos A,Tüttelmann F,Wyrwoll MJ,Kliesch S,Lopes AM,Goncalves J,Boyden SE,Wöste M,Hotaling JM,GEMINI Consortium.,Nagirnaja L,Conrad DF,Carrell DT,Aston KI

    更新日期：2020-11-19 00:00:00

  • Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis.

    abstract：:Uniparental disomy (UPD) is defined as the presence of a chromosome pair that derives from only one parent in a diploid individual. The human TRKA gene on chromosome 1q21-q22 encodes a receptor tyrosine kinase for nerve growth factor and is responsible for an autosomal recessive genetic disorder: congenital insensitiv...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390000369

    authors： Miura Y,Hiura M,Torigoe K,Numata O,Kuwahara A,Matsunaga M,Hasegawa S,Boku N,Ino H,Mardy S,Endo F,Matsuda I,Indo Y

    更新日期：2000-09-01 00:00:00

  • Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency.

    abstract：:Deficiency in 6-pyruvoyl-tetrahydropterin synthase (PTPS) activity is the major cause of tetrahydrobiopterin (BH4)-deficient phenylketonuria. Two single base alterations of PTPS cDNA, a C-to-T transition at nucleotide 259 and a novel A-to-G transition at nucleotide 155 (according to cDNA sequence), were identified in ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390050213

    authors： Liu TT,Hsiao KJ

    更新日期：1996-09-01 00:00:00

  • Effects of MAOA promoter methylation on susceptibility to paranoid schizophrenia.

    abstract：:This study was undertaken to analyze DNA methylation profiling at the monoamine oxidase A (MAOA) locus, in order to determine whether abnormal DNA methylation is involved in the development of schizophrenia. We recruited a total of 371 patients with paranoid schizophrenia (199 males and 172 females) and 288 unrelated ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-011-1131-5

    authors： Chen Y,Zhang J,Zhang L,Shen Y,Xu Q

    更新日期：2012-07-01 00:00:00

  • Tricho-rhino-phalangeal syndrome. The first case in Japan.

    abstract：:The case of a 13-year-old girl with tricho-rhino-phalangeal syndrome is presented. It is characterized by sparse and slow growing hair, pear-shaped nose and cone-shaped epiphyses of hands and feet. The inheritance pattern is probably autosomal dominant transmission. ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00291506

    authors： Fukushima N,Anakura M,Arashima S,Matsuda I,Ohsawa T

    更新日期：1976-05-19 00:00:00

  • Logistic regression model to estimate the risk of unbalanced offspring in reciprocal translocations.

    abstract：:The aim of this study was to estimate the risk of viable unbalanced offspring for a parental carrier of reciprocal translocation. On a large computerized database of reciprocal translocations we used logistic regression to model this risk. The status of the progeny is the outcome variable. Explanatory covariates are c...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00420946

    authors： Cans C,Cohen O,Lavergne C,Mermet MA,Demongeot J,Jalbert P

    更新日期：1993-12-01 00:00:00

  • Familial t(X;2) (p223;q323) with partial trisomy 2q and male and female balanced carriers.

    abstract：:A familial t(X;2) (p223;q323) is responsible for partial trisomy 2q in the proposita, a 3-year-old girl with severe mental retardation and hypotrophia. It is present in the balanced state in the mother, two daughters, and one son. X-replication was studied after BUDR incroporation and acridine orange staining. The rep...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00293779

    authors： Turleau C,Chavin-Colin F,de Grouchy J,Repessé G,Beauvais P

    更新日期：1977-06-10 00:00:00

  • Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis.

    abstract：:Disorders of the anterior segment of the eye encompass a variety of clinical presentations including aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters anomaly, as well as syndromal associations. These conditions have a significant impact on vision due to disruption of the visual axis, and al...

    journal_title：Human genetics

    pub_type： 杂志文章,评审

    doi：10.1007/s00439-018-1935-7

    authors： Ma AS,Grigg JR,Jamieson RV

    更新日期：2019-09-01 00:00:00

  • Biobanks and the phantom public.

    abstract：:This paper surveys the current state of knowledge about the relationship between different national publics and biobanks, how different publics perceive biobanks, and which issues are identified as important by various stakeholders. We discuss existing studies and emerging governance strategies dealing with the bioban...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-011-1065-y

    authors： Gottweis H,Chen H,Starkbaum J

    更新日期：2011-09-01 00:00:00

  • Malate dehydrogenase types in the Asian-Pacific area, and a description of new phenotypes.

    abstract：:A survey of more than 21 000 haemolysates from blood samples collected in various parts of south and southeast Asia, Australasia and the Western Pacific and examined in this laboratory has revealed several new alleles controlling variants of sMDH; in addition, further information has been provided on the distribution ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00396480

    authors： Blake NM

    更新日期：1978-07-12 00:00:00

  • Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations.

    abstract：:Recent studies indicate that, whereas the Sardinian population as a whole is comparable to outbred populations for linkage disequilibrium (LD) mapping of common variants, LD in Sardinian sub-isolates is more extended, making these populations particularly suitable for this approach. To evaluate the extent of LD betwee...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-002-0753-z

    authors： Angius A,Bebbere D,Petretto E,Falchi M,Forabosco P,Maestrale B,Casu G,Persico I,Melis PM,Pirastu M

    更新日期：2002-07-01 00:00:00

  • Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer.

    abstract：:Every author has erroneously been assigned to the affiliation "62". The affiliation 62 belongs to the author Graham Casey. ...

    journal_title：Human genetics

    pub_type： 已发布勘误

    doi：10.1007/s00439-019-02030-8

    authors： Bien SA,Su YR,Conti DV,Harrison TA,Qu C,Guo X,Lu Y,Albanes D,Auer PL,Banbury BL,Berndt SI,Bézieau S,Brenner H,Buchanan DD,Caan BJ,Campbell PT,Carlson CS,Chan AT,Chang-Claude J,Chen S,Connolly CM,Easton DF,Fesk

    更新日期：2019-07-01 00:00:00

  • DNA haplotype dependency of debrisoquine 4-hydroxylase (CYP2D6) expression among extensive metabolisers.

    abstract：:Deficient debrisoquine/sparteine type oxidation is inherited as an autosomal recessive trait. Of all Caucasians, 5-10% are poor metabolisers, due to the absence of cytochrome P4502D6. Extensive metabolisers (EMs) exhibit highly variable metabolic activity. We investigated the relationship between CYP2D6 activity and g...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF01247337

    authors： Mura C,Panserat S,Vincent-Viry M,Galteau MM,Jacqz-Aigrain E,Krishnamoorthy R

    更新日期：1993-10-01 00:00:00

  • Lipoprotein lipase gene is in linkage with blood pressure phenotypes in Chinese pedigrees.

    abstract：:To elucidate the mechanism of lipid metabolism in the genesis of essential hypertension (EH), we linked blood pressure (BP) phenotypes with the lipoprotein lipase (LPL) gene. Variance component and sib-pair linkage models were used to test the relationship of the polymorphisms in the LPL gene region and EH in 148 Chin...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-004-1108-8

    authors： Yang W,Huang J,Ge D,Yao C,Duan X,Shen Y,Qiang B,Gu D

    更新日期：2004-06-01 00:00:00