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
Dans Anglais
| LILACS
| ID: lil-249286
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.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Hypoxanthine phosphoribosyltransferase
/
Syndrome de Lesch-Nyhan
Type d'étude:
Etude diagnostique
/
Étude pronostique
Limites du sujet:
Adolescent
/
Adulte
/
Femelle
/
Humains
/
Mâle
Pays comme sujet:
Amérique du Sud
/
Brésil
langue:
Anglais
Texte intégral:
Arq. neuropsiquiatr
Thème du journal:
Neurologie
/
Psychiatrie
Année:
1999
Type:
Article
Pays d'affiliation:
Brésil
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