HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Homeobox HOXA10 gene analysis in cryptorchidism.

AbstractBACKGROUND:
In male mice, targeted disruption of the homeobox gene hoxa10 causes cryptorchidism and infertility. Genetic alterations in exon 1 of HOXA10 have been found in a high number of boys with cryptorchidism.
AIM:
To evaluate whether mutations of HOXA10 can be a common cause of cryptorchidism.
PATIENTS AND METHODS:
Genomic DNA was extracted from 18 patients with cryptorchidism (age 7-44 years; unilateral n = 13; no familial cases) and 28 healthy controls (age 9-39 years). HOXA10 was amplified by PCR and all coding sequences of exon 1 and 2 were sequenced. The PCR products were digested by ScrFI restriction enzyme and the restriction fragments obtained were analyzed on 2% agarose gel.
RESULTS:
One silent polymorphism, G-->A substitution at position 1203, was detected in 2/18 patients (11.1%). The same polymorphism was detected in 3/28 controls (10.7%).
CONCLUSIONS:
These data on HOXA10 analysis indicate that alterations of this gene may be more rare in males with cryptorchidism than previously suggested. This finding agrees with the rare occurrence of INSL3 gene mutations in human cryptorchidism, but needs to be confirmed in a larger series of selected patients.
AuthorsVeronica Bertini, Silvano Bertelloni, Angelo Valetto, Roberto Lala, Carlo Foresta, Paolo Simi
JournalJournal of pediatric endocrinology & metabolism : JPEM (J Pediatr Endocrinol Metab) Vol. 17 Issue 1 Pg. 41-5 (Jan 2004) ISSN: 0334-018X [Print] Germany
PMID14960020 (Publication Type: Journal Article)
Chemical References
  • DNA-Binding Proteins
  • Homeobox A10 Proteins
  • Homeodomain Proteins
  • HOXA10 protein, human
Topics
  • Adolescent
  • Adult
  • Child
  • Cryptorchidism (genetics, physiopathology)
  • DNA Mutational Analysis
  • DNA-Binding Proteins (genetics)
  • Homeobox A10 Proteins
  • Homeodomain Proteins
  • Humans
  • Male
  • Polymerase Chain Reaction

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: