Molecular diagnosis of deletions in the human multigene complex of growth and placental lactogen hormones
✍ Scribed by González-Rodríguez, E.; Jaramillo-Rangel, G.; Barrera-Saldaña, H. A.
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 30 KB
- Volume
- 72
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19971112)72:4<399::aid-ajmg5>3.0.co;2-m
No coin nor oath required. For personal study only.
✦ Synopsis
The type IA of the isolated deficiencies (ID) of growth (HGH) and placental lactogen (HPL) hormones are frequently the consequence of deletions in their respective genes. To facilitate the diagnosis of these cases, we developed a rapid method for detecting deletions of the genes involved based on the polymerase chain reaction (PCR) technique. This method consist of the simultaneous amplification via consensus primers of the 5 genes which conform the hGH-hPL multigene family, followed by the identification of each of them in the amplification product by gene-specific patterns of restriction enzyme cuts evidenced by agarose gel electrophoresis. We demonstrate the effectiveness of our method by identifying patients with deletions in gene members of the hGH-hPL family. Am.
📜 SIMILAR VOLUMES
We describe an individual in whom molecular genetic testing provided a diagnosis of the Carney complex, an autosomal dominant syndrome comprising cutaneous and cardiac myxomas, spotty pigmentation of the skin, and endocrinopathy. Recently, we localized the Carney complex disease gene to chromosome r
We studied the effects of recombinant human growth hormone (GH) treatment in 6 prepubertal children with achondroplasia. The patients' age ranged from 2'!'12 to 85/12 years and the GH dose was of 0.1 IU/kg/ day subcutaneously. Auxological assessments and bone age determinations were performed 6 mont
## Williams -Beuren syndrome (WBS) results from a deletion of 7q11.23 in 90-95% of all clinically typical cases. Clinical manifestation can be variable and therefore, deletion size, inherited elastin (ELN) and LIM kinase 1 (LIMK1) alleles, gender, and parental origin of deletion have been investiga
The 3C syndrome (cranio-cerebello-cardiac dysplasia or the Ritscher-Schinzel syndrome) is a recently delineated condition involving abnormalities of the cranium (large head with prominent forehead), cerebellum (Dandy-Walker cyst and vermis hypoplasia), and cardiac (primarily septal) defects. At leas