Literature DB >> 4065897

Duplication of 2p25: confirmation of the assignment of soluble acid phosphatase (ACP1) locus to 2p25.

Y Wakita, K Narahara, Y Takahashi, K Kikkawa, S Kimura, M Oda, H Kimoto.   

Abstract

The regional localization of the gene coding for soluble acid phosphatase (ACP1) has been under debate in the two different chromosome regions, 2p23 or 2p25. Gene dosage studies in a case with a karyotype of 46,XX,dir dup(2) (p25.1----p25.3) showed that the ACP1 activity was increased to 1.4 times the mean value of normal individuals with the same ACP1 phenotype, while the level of soluble malate dehydrogenase (MDH1) was normal. These gene dosage effects indicated that the ACP1 gene locus can be mapped to 2p25.

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Year:  1985        PMID： 4065897     DOI： 10.1007/BF00284586

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  10 in total

1.  GENETICAL STUDIES ON HUMAN RED CELL ACID PHOSPHATASE.

Authors:  D A HOPKINSON; N SPENCER; H HARRIS
Journal:  Am J Hum Genet       Date:  1964-03       Impact factor: 11.025

2.  Gene dosage: evidence for assignment of erythrocyte acid phosphatase locus to chromosome 2.

Authors:  R E Magenis; R D Koler; E Lovrien; R H Bigley; M C DuVal; K M Overton
Journal:  Proc Natl Acad Sci U S A       Date:  1975-11       Impact factor: 11.205

3.  Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation.

Authors:  P Maraschio; C Danesino; A Garau; V Saputo; V Vigi; S Volpato
Journal:  Hum Genet       Date:  1979-04-27       Impact factor: 4.132

4.  Regional assignment of red cell acid phosphatase locus to band 2p25.

Authors:  C Junien; J C Kaplan; A Bernheim; R Berger
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

5.  Assignment by deletion of human red cell acid phosphatase gene locus to the short arm of chromosome 2.

Authors:  M A Ferguson-Smith; B F Newman; P M Ellis; D M Thomson; I D Riley
Journal:  Nat New Biol       Date:  1973-06-27

6.  Partial duplication for the short arm of chromosome 2 : the 2p23 to pter syndrome.

Authors:  W Rosenfeld; R S Verma; R Jhaveri; H Dosik; H Evans
Journal:  Ann Genet       Date:  1982

7.  Ring chromosome 2: clinical, chromosomal, and biochemical aspects.

Authors:  M Jansen; F A Beemer; C van der Heiden; J O Van Hemel; J L Van den Brande
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

8.  Localization of human gene loci using spontaneous chromosome rearrangements in human-Chinese hamster somatic cell hybrids.

Authors:  J L Hamerton; T Mohandas; J McAlpine
Journal:  Am J Hum Genet       Date:  1975-09       Impact factor: 11.025

9.  Deletion mapping: further evidence for the location of acid phosphatase (ACP1) within 2p23.

Authors:  B S Emanuel; E H Zackai; D C Van Dyke; D M Swallow; F H Allen; W J Mellman
Journal:  Am J Med Genet       Date:  1979

10.  Further evidence by gene dosage for the regional assignment of erythrocyte acid phosphatase (ACP1) and malate dehydrogenase (MDH1) loci on chromosome 2p.

Authors:  L M Larson; A W Bruce; J H Saumur; W A Wasdahl
Journal:  Clin Genet       Date:  1982-10       Impact factor: 4.438
  10 in total
  3 in total

1.  Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements.

Authors:  S W Horsley; S J Knight; J Nixon; S Huson; M Fitchett; R A Boone; D Hilton-Jones; J Flint; L Kearney
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

2.  Duplication 2p25 in a child with clinical features of CHARGE syndrome.

Authors:  Ethan D Sperry; Jane L Schuette; Conny M A van Ravenswaaij-Arts; Glenn E Green; Donna M Martin
Journal:  Am J Med Genet A       Date:  2016-02-06       Impact factor: 2.802

3.  Fetal Cystic Hygroma Associated with Terminal 2p25.1 Duplication and Terminal 3p25.3 Deletion: Cytogenetic, Fluorescent in Situ Hybridization and Microarray Familial Characterization of Two Different Chromosomal Structural Rearrangements.

Authors:  F Stipoljev; M Barbalic; M Logara; A Vicic; M Vulic; S Zekic Tomas; R Gjergja Juraski
Journal:  Balkan J Med Genet       Date:  2021-03-23       Impact factor: 0.519
  3 in total

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