Identification of a new lesch syndrome mutation (HPRT BRASIL) and analysis of pontentially heterozygous females
Arq. neuropsiquiatr
; 57(4): 907-11, dez. 1999. tab
Article
in En
| LILACS
| ID: lil-249286
Responsible library:
BR1.1
ABSTRACT
The mutation in the hypoxanthine-guanine phosphoribosyltransfere (HPRT) gene has been determined in two brothers affected with Lesch-Nyhan syndrome. Female members of the family who are at risk for being heterozygous carriers of the HPRT mutation were also studied to determine whether they carry the mutation. DNA sequencing revealed that the boys' mother heterozygous for the mutation in her somatic cells, but that three maternal aunts are not heterozygous. Such carrier information is important for the future pregnancy plans of at-risk females. The mutation, an A_T transversion at cDNA base 590 (590 A_T), results in an amino acid change of glutamic acid to valine at codon 197, and has not been reported previously in a Lesch-Nyhan syndrome male. This mutation is designated HPRT.
Full text:
1
Collection:
01-internacional
Database:
LILACS
Main subject:
Hypoxanthine Phosphoribosyltransferase
/
Lesch-Nyhan Syndrome
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
Country/Region as subject:
America do sul
/
Brasil
Language:
En
Journal:
Arq. neuropsiquiatr
Journal subject:
NEUROLOGIA
/
PSIQUIATRIA
Year:
1999
Document type:
Article
Affiliation country:
Brazil