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Investigation of PLAC4 gene polymorphisms in the Brazilian population

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Renata Moscolini Romão
Total Authors: 1
Document type: Master's Dissertation
Press: São Paulo.
Institution: Universidade de São Paulo (USP). Faculdade de Medicina (FM/SBD)
Defense date:
Examining board members:
Mário Henrique Burlacchini de Carvalho; Rossana Pulcineli Vieira Francisco; Rosiane Mattar
Advisor: Mário Henrique Burlacchini de Carvalho

Two hundred DNA samples obtained from unrelated Brazilian individuals were screened for SNPs in a region of 4079 bp of the exon of PLAC4 gene by polymerase chain reaction (PCR) - using Taq Platinum DNA polymerase kit (Invitrogen, USA) cycled on Eppendorf Mastercycle Gradient thermocycle (Eppendorf, Germany); and subsequent sequencing using Big Dye Terminator Cycle Sequencing v3.1 kit (Applied Biosystems, USA) on ABI 3100 DNA Sequencer (Applied Biosystems, USA). Seven fragments were amplified using primer pairs designed by primer 3 software based on PLAC4 sequence obtained from GenBank. Ten SNPs with heterozigosity rate above 25% were identified, located in six of the seven fragments studied, that covers up to 93% of Brazilian population. A panel combining this 10 SNPs show potential utility in clinical setting for a noninvasive prenatal diagnostic test for Down syndrome based in the SNP/mRNA approach (AU)

FAPESP's process: 09/04751-5 - PLAC4 gene polymorphisms in the Brazilian population.
Grantee:Renata Moscolini Romão
Support Opportunities: Scholarships in Brazil - Master