Molecular characterization of a ring chromosome 14 showing that the PI locus is centromeric to the D14S1 and IGH loci.

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 D14S1 loci, located at 14q32.3 and 14q32.2 respectively, were deleted on the ring chromosome 14, but that the PI locus was not. Therefore, the chromosomal break lies between PI and D14S1. These results show that the order of these chromosome 14 markers is cen-PI-D14S1-IGH, in keeping with multipoint linkage data. Further molecular characterization of ring 14 chromosomes should lead to a detailed understanding of the molecular events and clinical consequences of the gene deletion associated with such chromosomal aberrations.

journal_name

Hum Genet

journal_title

Human genetics

authors

Keyeux G,Gilgenkrantz S,Lefranc G,Lefranc MP

doi

10.1007/BF00291158

subject

Has Abstract

pub_date

1989-06-01 00:00:00

pages

219-22

issue

3

eissn

0340-6717

issn

1432-1203

journal_volume

82

pub_type

杂志文章
  • Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

    abstract::Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous pathogenic missense variants of LMX1A in two families of Dutch origin with progressive nonsyndromic hearing impairment (HI), using whole exome sequencing. One ...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s00439-018-1880-5

    authors: Wesdorp M,de Koning Gans PAM,Schraders M,Oostrik J,Huynen MA,Venselaar H,Beynon AJ,van Gaalen J,Piai V,Voermans N,van Rossum MM,Hartel BP,Lelieveld SH,Wiel L,Verbist B,Rotteveel LJ,van Dooren MF,Lichtner P,Kunst HPM,

    更新日期:2018-05-01 00:00:00

  • Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study.

    abstract::The development of prenatal diagnosis in Italy was made difficult by the restrictions of the old abortion law and only in recent years has a consistent number of cases been investigated. We report the experience on prenatal chromosome diagnosis of ten Italian centers participating in a collaborative study on 4952 diag...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00281266

    authors: Simoni G,Fraccaro M,Arslanian A,Bacchetta M,Baccichetti C,Bignone FA,Cagiano A,Carbonara AO,Carozzi F,Cuoco C,Bricarelli FD,Dallapiccola B,Dalprà L,Carbone LD,Ferranti G,Filippi G,Frateschi M,Gimelli G,Gualtieri RM,

    更新日期:1982-01-01 00:00:00

  • PstI identifies biallelic DNA polymorphism of the human casein kinase 2 alpha gene (CSNK2A1).

    abstract::cDNA probe of the casein kinase 2 alpha subunit gene detects a biallelic PstI polymorphism. This restriction fragment length polymorphism is the first known genetic marker of this gene. ...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00201680

    authors: Singh S,Jantke I,Simon M,Meybohm I,Boldyreff B,Issinger O,Goedde HW

    更新日期:1994-04-01 00:00:00

  • Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.

    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

    authors: Verbeek DS,Schelhaas JH,Ippel EF,Beemer FA,Pearson PL,Sinke RJ

    更新日期:2002-10-01 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

  • Analysis of protein patterns from different organs and cell fractions of trisomy 19 mice.

    abstract::Proteins were extracted from liver, brain, and skin of 6-day-old mice with trisomy (Ts) 19 and fractionated into solubilized cell proteins and structure-bound cell proteins. The proteins were separated by two-dimensional electrophoresis, and protein patterns were compared in the combinations Ts/normal and normal/norma...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00291429

    authors: Zeindl-Eberhart E,Grohé G,Klose J

    更新日期:1987-12-01 00:00:00

  • Structural and functional analysis of a novel mutation of CYP21B in a heterozygote carrier of 21-hydroxylase deficiency.

    abstract::Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders and occurs in its non-classical form in up to 6% of hirsute women. We report on a young woman with the clinical diagnosis of non-classical CAH and a novel, heterozygous missense mutation CTG-->...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s00439-005-1339-3

    authors: Bojunga J,Welsch C,Antes I,Albrecht M,Lengauer T,Zeuzem S

    更新日期:2005-10-01 00:00:00

  • A molecular and cytogenetic study in Finnish Prader-Willi patients.

    abstract::The Prader-Willi syndrome (PWS) is a developmental disorder caused by a deficiency of paternal contributions, arising from differently sized deletions, uniparental disomy or rare imprinting mutations, in the chromosome region 15q11-q13. We studied 41 patients with suspected PWS and their parents using cytogenetic and ...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00223871

    authors: Kokkonen H,Kähkönen M,Leisti J

    更新日期:1995-05-01 00:00:00

  • FTO influences on longitudinal BMI over childhood and adulthood and modulation on relationship between birth weight and longitudinal BMI.

    abstract::SNP rs9939609 within the fat mass and obesity associated gene (FTO) is strongly associated with adult body mass index (BMI). However, influences of FTO on longitudinal BMI change from childhood to adulthood have not been examined. Knowledge is limited on FTO, modulating the association between birth weight and longitu...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s00439-010-0883-7

    authors: Mei H,Chen W,Srinivasan SR,Jiang F,Schork N,Murray S,Smith E,So JD,Berenson GS

    更新日期:2010-12-01 00:00:00

  • A G to A transition at the last nucleotide of exon 6 of the gamma c gene (868G-->A) may result in either a splice or missense mutation in patients with X-linked severe combined immunodeficiency.

    abstract::We report here that a defect of the interleukin common gamma subunit (gamma c) in X-linked severe combined immunodeficiency (XSCID) previously known as a missense mutation resulted instead in exon skipping in a Japanese XSCID patient. The phenotype of the patient was consistent with that of typical XSCID, and his Epst...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s004390050907

    authors: Kanai N,Yanai F,Hirose S,Nibu K,Izuhara K,Tani T,Kubota T,Mitsudome A

    更新日期:1999-01-01 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

  • One-carbon metabolism gene polymorphisms and risk of non-Hodgkin lymphoma in Australia.

    abstract::Dysregulation of the one-carbon metabolic pathway, which controls nucleotide synthesis and DNA methylation, may promote lymphomagenesis. We evaluated the association between polymorphisms in one-carbon metabolism genes and risk of non-Hodgkin lymphoma (NHL) in a population-based case-control study in Australia. Cases ...

    journal_title:Human genetics

    pub_type: 杂志文章,meta分析

    doi:10.1007/s00439-007-0431-2

    authors: Lee KM,Lan Q,Kricker A,Purdue MP,Grulich AE,Vajdic CM,Turner J,Whitby D,Kang D,Chanock S,Rothman N,Armstrong BK

    更新日期:2007-12-01 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

  • Lyonization and the lines of Blaschko.

    abstract::The lines of Blaschko represent a nonrandom developmental pattern of the skin fundamentally differing from the system of dermatomes. Many nevoid skin lesions display an arrangement following these lines. This is a review of case reports providing photographically documented evidence that the lines of Blaschko become m...

    journal_title:Human genetics

    pub_type: 杂志文章,评审

    doi:10.1007/BF00273442

    authors: Happle R

    更新日期:1985-01-01 00:00:00

  • Unusual sialilation of three different rare genetic variants of serum DBP: Gc1A17, Gc1A16, and Gc1A11.

    abstract::The proteins of three anodal Gc1 variants, Gc1A16, 1A11, and 1A17, are characterized by the most acidic isoelectric points observed so far among the different Gc mutants. Stepwise removal of N-acetylneuraminic acid (NANA) by treatment with neuraminidase was performed to estimate the degree of sialilation of these Gc v...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00293029

    authors: Thymann M,Hoste B,Scheffrahn W,Constans J,Cleve H

    更新日期:1985-01-01 00:00:00

  • No evidence for linkage disequilibrium between Bf and GLO in African negroids.

    abstract::A sample of South African Negroids (n = 791) was scored for each individual's Bf and GLO phenotype. (The genes for the Bf and GLO olymorphisms are included in a known cluster of linked genes on chromosome 6.) Following a x2-test the respective two series of alleles were found to be disturbed at random, i.e., there was...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00527407

    authors: Bender K,Mauff G,Hitzeroth HW

    更新日期:1977-09-22 00:00:00

  • An estimate of genetic risk from 8-methoxypsoralen photochemotherapy.

    abstract::A method based on a combination of cell culture and pharmacokinetic data is explored as a way of estimating the possible genetic risk to man from a mutagenic chemical. 8-methoxypsoralen, which is given to psoriasis patients as part of a photochemotherapy regime, is used, since it represents a 'real-life' situation and...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00277690

    authors: Bridges BA

    更新日期:1979-05-23 00:00:00

  • The genetic architecture of morphological abnormalities of the sperm tail.

    abstract::Spermatozoa contain highly specialized structural features reflecting unique functions required for fertilization. Among them, the flagellum is a sperm-specific organelle required to generate the motility, which is essential to reach the egg. The flagellum integrity is, therefore, critical for normal sperm function an...

    journal_title:Human genetics

    pub_type: 杂志文章,评审

    doi:10.1007/s00439-020-02113-x

    authors: Touré A,Martinez G,Kherraf ZE,Cazin C,Beurois J,Arnoult C,Ray PF,Coutton C

    更新日期:2020-01-16 00:00:00

  • Sex-reversed XY females with campomelic dysplasia are H-Y negative.

    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

    authors: Bricarelli FD,Fraccaro M,Lindsten J,Müller U,Baggio P,Carbone LD,Hjerpe A,Lindgren F,Mayerová A,Ringertz H,Ritzén EM,Rovetta DC,Sicchero C,Wolf U

    更新日期:1981-01-01 00:00:00

  • The human lactase persistence-associated SNP -13910*T enables in vivo functional persistence of lactase promoter-reporter transgene expression.

    abstract::Lactase is the intestinal enzyme responsible for digestion of the milk sugar lactose. Lactase gene expression declines dramatically upon weaning in mammals and during early childhood in humans (lactase nonpersistence). In various ethnic groups, however, lactase persists in high levels throughout adulthood (lactase per...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s00439-012-1140-z

    authors: Fang L,Ahn JK,Wodziak D,Sibley E

    更新日期:2012-07-01 00:00:00

  • Hb D Los Angeles (D-Punjab) and Hb Presbyterian: analysis of the defect at the DNA level.

    abstract::Amplification of the beta-globin gene by the polymerase chain reaction (PCR) and direct sequencing were used for a fast and reliable identification of the beta-globin variant Hb D Los Angeles and revealed the predicted G----C substitution in codon 121. The same method showed the molecular defect in Hb Presbyterian to ...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00196236

    authors: Schnee J,Aulehla-Scholz C,Eigel A,Horst J

    更新日期:1990-03-01 00:00:00

  • A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus.

    abstract::X-linked hydrocephalus (HSAS) is the most common form of inherited hydrocephalus characterized by hydrocephalus due to stenosis of the aqueduct of Sylvius, mental retardation, clasped thumbs, and spastic paraparesis. MASA syndrome (mental retardation, aphasia, shuffling gait and adducted thumbs) and SPG1 (X-linked com...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF02185770

    authors: Takechi T,Tohyama J,Kurashige T,Maruta K,Uyemura K,Ohi T,Matsukura S,Sakuragawa N

    更新日期:1996-03-01 00:00:00

  • A small deletion and an adjacent base exchange in a potential stem-loop region of the neurofibromatosis 1 gene.

    abstract::A single-strand conformational polymorphism found in the DNA of a patient with neurofibromatosis 1 (NF1) was shown to be caused by a deletion of a CCACC or CACCT sequence and an adjacent transversion, located about 500 base pairs downstream from the region that codes for a functional domain of the NF1 gene product. Th...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00201726

    authors: Stark M,Assum G,Krone W

    更新日期:1991-10-01 00:00:00

  • Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy.

    abstract::Autosomal dominant Emery-Dreifuss muscular dystrophy is caused by mutations in LMNA gene encoding lamins A and C. The disease is characterized by early onset joint contractures during childhood associated with humero-peroneal muscular wasting and weakness, and by the development of a cardiac disease in adulthood. Impo...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s00439-010-0909-1

    authors: Granger B,Gueneau L,Drouin-Garraud V,Pedergnana V,Gagnon F,Ben Yaou R,Tezenas du Montcel S,Bonne G

    更新日期:2011-02-01 00:00:00

  • Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus.

    abstract::The vasopressin V2 receptor (V2R) and the aquaporin-2 genes of two unrelated male patients with congenital nephrogenic diabetes insipidus were analyzed. The V2R gene of the patient of family 1 had the wild-type sequence. Consequently, the coding region of the aquaporin-2 gene including the exon-intron junctions was se...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s004390050264

    authors: Oksche A,Möller A,Dickson J,Rosendahl W,Rascher W,Bichet DG,Rosenthal W

    更新日期:1996-11-01 00:00:00

  • Lactose digestion and the evolutionary genetics of lactase persistence.

    abstract::It has been known for some 40 years that lactase production persists into adult life in some people but not in others. However, the mechanism and evolutionary significance of this variation have proved more elusive, and continue to excite the interest of investigators from different disciplines. This genetically deter...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s00439-008-0593-6

    authors: Ingram CJ,Mulcare CA,Itan Y,Thomas MG,Swallow DM

    更新日期:2009-01-01 00:00:00

  • Feto-maternal transfusion after chorionic villus sampling. Evaluation by maternal serum alphafetoprotein measurement.

    abstract::The alphafetoprotein (AFP) concentration in maternal serum was determined before and after chorionic villus sampling (CVS). A significant increase of 20% or more in the pre-CVS level was noted immediately after sampling in 59% of 837 pregnancies indicating some degree of feto-maternal haemorrhage. The increase in the ...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00291241

    authors: Fuhrmann W,Altland K,Köhler A,Holzgreve W,Jovanović V,Rauskolb R,Pawlowitzki IH,Miny P

    更新日期:1988-01-01 00:00:00

  • A heritable fragile 12q24.13 segregating in a family with the fragile X chromosome.

    abstract::A fragile site on chromosome 12, at 12q24.13, was found in the lymphocytes of two members of a family during the study for detection of a fragile X chromosome. The site was found to be heritable and folate-sensitive, and it fulfills all four criteria for a fragile site. It thus can now be confirmed as the heritable fr...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00273829

    authors: Amarose AP,Huttenlocher PR,Sprudzs RM,Laitsch TJ,Pettenati MJ

    更新日期:1987-01-01 00:00:00

  • A polymorphism in the promoter region of catalase is associated with blood pressure levels.

    abstract::Catalase is an important antioxidant enzyme that detoxifies H2O2 into oxygen and water and thus limits the deleterious effects of reactive oxygen species (ROS). Because chronic exposure to excess ROS may contribute to vascular damage, we investigated whether genetic variation in catalase was associated with susceptibi...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s004390100553

    authors: Jiang Z,Akey JM,Shi J,Xiong M,Wang Y,Shen Y,Xu X,Chen H,Wu H,Xiao J,Lu D,Huang W,Jin L

    更新日期:2001-07-01 00:00:00

  • Prenatal diagnosis of genodermatoses by ultrastructural diagnostic markers in extra-embryonic tissues: defective hemidesmosomes in amnion epithelium of fetuses affected with epidermolysis bullosa Herlitz type (an alternative prenatal diagnosis in certain

    abstract::We report the first use of amnion epithelium for prenatal diagnosis. Prenatal diagnosis of recessive epidermolysis bullosa atrophicans generalisata gravis Herlitz type can at present be achieved with safety by detailed ultrastructural analysis of fetal skin. Because of the close developmental origin of amnion and skin...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00206763

    authors: Hausser I,Anton-Lamprecht I

    更新日期:1990-08-01 00:00:00