Literature DB >> 1349921

Highly polymorphic XbaI RFLPs of the human 21-hydroxylase genes among Chinese.

L Chen1, X Pan, Y Shen, Z Chen, Y Zhang, R Chen.   

Abstract

A highly polymorphic XbaI restriction site flanking the human 21-hydroxylase genes (21-OHA and 21-OHB) was found with the probe pC21/3c, the cDNA of the 21-hydroxylase gene. From the results of RFLP analysis of 10 subjects with congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency and their parents, at least four polymorphic fragments (30 kb, 27 kb, 25 kb, and 15 kb) resulting from cleavage at the polymorphic endonuclease sites outside the genes were found, and at least 10 different polymorphic patterns were observed among Chinese. These results indicate that these polymorphic loci are very informative for prenatal diagnosis of 21-hydroxylase deficiency.

Entities:  

Mesh：

Substances：

Year:  1992        PMID： 1349921      PMCID： PMC1015918          DOI： 10.1136/jmg.29.4.231

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  9 in total

1.  Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency.

Authors:  Y Higashi; A Tanae; H Inoue; Y Fujii-Kuriyama
Journal:  Am J Hum Genet       Date:  1988-01       Impact factor: 11.025

2.  Restriction maps and restriction fragment length polymorphisms of the human 21-hydroxylase genes.

Authors:  P A Donohoue; N Jospe; C J Migeon; R H McLean; W B Bias; P C White; C Van Dop
Journal:  Biochem Biophys Res Commun       Date:  1986-04-29       Impact factor: 3.575

3.  [Detection of steroid 21-hydroxylase gene variation among normal Chinese and patients with congenital adrenal hyperplasia].

Authors:  X Pan
Journal:  Zhonghua Yi Xue Za Zhi       Date:  1991-06

4.  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

5.  Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein.

Authors:  P A Donohoue; C van Dop; R H McLean; P C White; N Jospe; C J Migeon
Journal:  J Clin Endocrinol Metab       Date:  1986-05       Impact factor: 5.958

6.  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

7.  P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia.

Authors:  K J Matteson; J A Phillips; W L Miller; B C Chung; P J Orlando; H Frisch; A Ferrandez; I M Burr
Journal:  Proc Natl Acad Sci U S A       Date:  1987-08       Impact factor: 11.205

8.  Exon 7 Ncol restriction site within CYP21B (steroid 21-hydroxylase) is a normal polymorphism.

Authors:  P A Donohoue; R Sandrini Neto; M M Collins; C J Migeon
Journal:  Mol Endocrinol       Date:  1990-09

9.  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
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.