A gene for achondroplasia-hypochondroplasia maps to chromosome 4p.
Nat Genet
; 6(3): 318-21, 1994 Mar.
Article
em En
| MEDLINE
| ID: mdl-8012398
ABSTRACT
Achondroplasia (ACH) is a frequent condition of unknown origin characterized by short-limbed dwarfism and macrocephaly. Milder forms, termed hypochondroplasias (HCH) result in short stature with radiological features similar to those observed in ACH. We report on the mapping of a gene causing ACH/HCH to human chromosome 4p16.3, by linkage to the iduronidase A (IDUA) locus, in 15 informative families (Z max = 3.01 at theta = 0 for ACH; Z max = 4.71 at theta = 0 for ACH/HCH). Multipoint linkage analysis provides evidence for mapping the disease locus telomeric to D4S412 (location score in log 10 = 4.60). Moreover, this study supports the view that ACH and HCH are genetically homogeneous in our series.
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Base de dados:
MEDLINE
Assunto principal:
Acondroplasia
/
Cromossomos Humanos Par 4
Limite:
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
1994
Tipo de documento:
Article