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| Scalco,Renata C.; Gonçalves,Fernanda T.; Santos,Hadassa C.; Cardena,Mari M. S. G.; Tonelli,Carlos A.; Funari,Mariana F. A.; Aracava,Rosana M.; Pereira,Alexandre C.; Fridman,Cintia; Jorge,Alexander A. L.. |
| ABSTRACT Homozygous STAT5B mutations causing growth hormone insensitivity with immune dysfunction were described in 10 patients since 2003, including two Brazilian brothers from the south of Brazil. Our objectives were to evaluate the prevalence of their STAT5B mutation in this region and to analyze the presence of a founder effect. We obtained DNA samples from 1,205 local inhabitants, 48 relatives of the homozygous patients and four individuals of another affected family. Genotyping for STAT5B c.424_427del mutation and for two polymorphic markers around it was done through fragment analysis technique. We also determined Y-chromosome and mtDNA haplotypes and genomic ancestry in heterozygous carriers. We identified seven families with STAT5B c.424_427del... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Founder effect; Growth hormone insensitivity; Immune dysfunction; STAT5B. |
| Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300436 |
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