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Literature DB >> 8979264

Identification of seven novel mutations in LH beta-subunit gene by SSCP.

A C Roy¹, W X Liao, Y Chen, S Arulkumaran, S S Ratnam.

Abstract

Seven new point mutations have been identified from LH beta-subunit gene by PCR-mediated SSCP, and sequencing. One mutation was found changing amino acid from Gln102 to Ser102. The remaining six mutations, which did not change the codings, were in complete linkage disequilibrium. SSCP can be used in the diagnosis of LH-related disorders.

Entities: Chemical Gene Mutation

Mesh：

Substances：

Year: 1996 PMID： 8979264 DOI： 10.1007/bf00229477

Source DB: PubMed Journal: Mol Cell Biochem ISSN： 0300-8177 Impact factor: 3.396

9 in total

Review 1. Molecular biology of the pituitary gonadotropins.

Authors: S D Gharib; M E Wierman; M A Shupnik; W W Chin
Journal: Endocr Rev Date: 1990-02 Impact factor: 19.871

2. Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone.

Authors: J Weiss; L Axelrod; R W Whitcomb; P E Harris; W F Crowley; J L Jameson
Journal: N Engl J Med Date: 1992-01-16 Impact factor: 91.245

Review 3. Glycoprotein hormones: structure and function.

Authors: J G Pierce; T F Parsons
Journal: Annu Rev Biochem Date: 1981 Impact factor: 23.643

4. Evolution of the genes for the beta subunits of human chorionic gonadotropin and luteinizing hormone.

Authors: K Talmadge; N C Vamvakopoulos; J C Fiddes
Journal: Nature Date: 1984 Jan 5-11 Impact factor: 49.962

5. Complete androgen insensitivity due to a splice-site mutation in the androgen receptor gene and genetic screening with single-stranded conformation polymorphism.

Authors: E L Yong; K L Chua; M Yang; A Roy; S Ratnam
Journal: Fertil Steril Date: 1994-05 Impact factor: 7.329

6. Antigenic alteration of an anomalous human luteinizing hormone caused by two chorionic gonadotropin-type amino-acid substitutions.

Authors: K Okuda; T Yamada; H Imoto; H Komatsubara; O Sugimoto
Journal: Biochem Biophys Res Commun Date: 1994-04-15 Impact factor: 3.575

7. Screening of the mutations in luteinizing hormone beta-subunit in patients with menstrual disorders.

Authors: N Suganuma; K Furui; M Furuhashi; Y Asada; F Kikkawa; Y Tomoda
Journal: Fertil Steril Date: 1995-05 Impact factor: 7.329

8. Multiple promoter elements in the human chorionic gonadotropin beta subunit genes distinguish their expression from the luteinizing hormone beta gene.

Authors: A N Hollenberg; R G Pestell; C Albanese; M E Boers; J L Jameson
Journal: Mol Cell Endocrinol Date: 1994-12 Impact factor: 4.102

9. Identification of two point mutations in the gene coding luteinizing hormone (LH) beta-subunit, associated with immunologically anomalous LH variants.

Authors: K Furui; N Suganuma; S Tsukahara; Y Asada; F Kikkawa; M Tanaka; T Ozawa; Y Tomoda
Journal: J Clin Endocrinol Metab Date: 1994-01 Impact factor: 5.958

9 in total

6 in total

Identification of seven novel mutations in LH beta-subunit gene by SSCP.

Review 1. Molecular biology of the pituitary gonadotropins.

2. Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone.

Review 3. Glycoprotein hormones: structure and function.

4. Evolution of the genes for the beta subunits of human chorionic gonadotropin and luteinizing hormone.

5. Complete androgen insensitivity due to a splice-site mutation in the androgen receptor gene and genetic screening with single-stranded conformation polymorphism.

6. Antigenic alteration of an anomalous human luteinizing hormone caused by two chorionic gonadotropin-type amino-acid substitutions.

7. Screening of the mutations in luteinizing hormone beta-subunit in patients with menstrual disorders.

8. Multiple promoter elements in the human chorionic gonadotropin beta subunit genes distinguish their expression from the luteinizing hormone beta gene.

9. Identification of two point mutations in the gene coding luteinizing hormone (LH) beta-subunit, associated with immunologically anomalous LH variants.

Review 1. Mutations in human gonadotropin and gonadotropin-receptor genes.

Review 2. Reproductive tract function and dysfunction in women.

Review 3. Understanding polycystic ovarian syndrome pathogenesis: an updated of its genetic aspects.

4. The Genetic Basis of the Polycystic Ovary Syndrome: A Literature Review Including Discussion of PPAR-gamma.

Review 5. Genetic Basis of Polycystic Ovary Syndrome (PCOS): Current Perspectives.

Review 6. Polycystic Ovarian Syndrome: A Complex Disease with a Genetics Approach.