Literature DB >> 3492424

The patient with combined deficiency of neuraminidase and 21-hydroxylase.

F Harada, Y Nishimura, K Suzuki, H Matsumoto, T Oohira, I Matsuda, T Sasazuki.   

Abstract

To investigate the possibility that deletion en block in the HLA region had caused the combined deficiency of neuraminidase and 21-hydroxylase in a female patient, genetic markers on the short arm of chromosome 6 were examined in the patient and her parents, and 21-hydroxylase genes of the patient were analyzed by the Southern blot technique. The affected "extended haplotype" identical by descent might have been recombined at two sites, between HLA-A and C and between HLA-DQ and GLO. This suggests that the neuraminidase gene is mapped between HLA-A and GLO. Southern blot analysis revealed the existence of two 21-hydroxylase genes, so that we found no evidence to support the possibility that deletion en bloc in the HLA class III region had caused the combined deficiency of neuraminidase and 21-hydroxylase.

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Year:  1987        PMID： 3492424     DOI： 10.1007/BF00273850

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


  10 in total

1.  Statement on the nomenclature of human C4 allotypes.

Authors:  G Mauff; C A Alper; Z Awdeh; J R Batchelor; J Bertrams; G Bruun-Petersen; R L Dawkins; P Démant; J Edwards; H Grosse-Wilde; G Hauptmann; P Klouda; L Lamm; E Mollenhauer; C Nerl; B Olaisen; G O'Neill; C Rittner; M H Roos; V Skanes; P Teisberg; L Wells
Journal:  Immunobiology       Date:  1983-03       Impact factor: 3.144

2.  Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man.

Authors:  P C White; D Grossberger; B J Onufer; D D Chaplin; M I New; B Dupont; J L Strominger
Journal:  Proc Natl Acad Sci U S A       Date:  1985-02       Impact factor: 11.205

3.  Evidence for placing the Neu-1 locus within the mouse H-2 complex.

Authors:  F Figueroa; D Klein; S Tewarson; J Klein
Journal:  J Immunol       Date:  1982-11       Impact factor: 5.422

4.  Two steroid 21-hydroxylase genes are located in the murine S region.

Authors:  P C White; D D Chaplin; J H Weis; B Dupont; M I New; J G Seidman
Journal:  Nature       Date:  1984 Nov 29-Dec 5       Impact factor: 49.962

5.  Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.

Authors:  M C Carroll; R D Campbell; R R Porter
Journal:  Proc Natl Acad Sci U S A       Date:  1985-01       Impact factor: 11.205

6.  The infantile form of sialidosis type II associated with congenital adrenal hyperplasia: possible linkage between HLA and the neuraminidase deficiency gene.

Authors:  T Oohira; N Nagata; I Akaboshi; I Matsuda; S Naito
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

7.  Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene.

Authors:  Y Higashi; H Yoshioka; M Yamane; O Gotoh; Y Fujii-Kuriyama
Journal:  Proc Natl Acad Sci U S A       Date:  1986-05       Impact factor: 11.205

8.  HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation.

Authors:  P C White; M I New; B Dupont
Journal:  Proc Natl Acad Sci U S A       Date:  1984-12       Impact factor: 11.205

9.  Extended HLA/complement allele haplotypes: evidence for T/t-like complex in man.

Authors:  Z L Awdeh; D Raum; E J Yunis; C A Alper
Journal:  Proc Natl Acad Sci U S A       Date:  1983-01       Impact factor: 11.205

10.  Deletion of complement C4 and steroid 21-hydroxylase genes in the HLA class III region.

Authors:  M C Carroll; A Palsdottir; K T Belt; R R Porter
Journal:  EMBO J       Date:  1985-10       Impact factor: 11.598
  10 in total
  6 in total

Review 1.  Comparative map for mice and humans.

Authors:  J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M R Kosowsky; T H Roderick
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

Review 2.  Comparative map for mice and humans.

Authors:  J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M Kosowsky; T H Roderick
Journal:  Mamm Genome       Date:  1991       Impact factor: 2.957

Review 3.  The molecular genetics of human chromosome 6.

Authors:  V Cunliffe; J Trowsdale
Journal:  J Med Genet       Date:  1987-11       Impact factor: 6.318

Review 4.  Recent development in mammalian sialidase molecular biology.

Authors:  Eugenio Monti; Augusto Preti; Bruno Venerando; Giuseppe Borsani
Journal:  Neurochem Res       Date:  2002-08       Impact factor: 3.996

5.  Gene conversion in steroid 21-hydroxylase genes.

Authors:  K Urabe; A Kimura; F Harada; T Iwanaga; T Sasazuki
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025

6.  Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India.

Authors:  Prajnya Ranganath; Vishakha Sharma; Sumita Danda; Madhusudan R Nandineni; Ashwin B Dalal
Journal:  Indian J Med Res       Date:  2012-12       Impact factor: 2.375
  6 in total

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