High specificity PCR screening for 22q11.2 microdeletion in three different ethnic groups

Brazilian Journal of Medical and Biological Research

A.c. Pereira²  R.f.r. Corrêa²  G.f. Mota²  C.a. Kim¹  S.f. Mesquita¹  J.e. Krieger² 

[1] ,Universidade de São Paulo Faculdade de Medicina Instituto do Coração

关键词: DiGeorge syndrome;    PCR screening;    22q11.2;   

DOI  :  10.1590/S0100-879X2003001000012

来源: SciELO

【 摘 要 】

Congenital heart defects are the most common of all human birth defects. Numerous studies have shown that a deletion within chromosome 22q11 is associated with DiGeorge syndrome and certain forms of sporadic congenital cardiovascular disease. We have determined the value of a PCR assay using markers D22S941, D22S944 and D22S264 designed for the screening of 22q11.2 deletion through consecutive homozygosity in an ethnically admixed urban population. The study population comprised 149 unrelated men and women from three different ethnic groups (white, mulatto and black). Test specificity for the overall population was estimated at 98.3%. We found no significant difference when comparing heterozygosity indices and ethnicity (P value = 0.43 (D22S944), 0.22 (D22S264), and 0.58 (D22S941)). There was no significant difference regarding assay specificity between the three different ethnic groups studied. This assay could constitute a cost-effective way to screen a large number of patients at increased risk, since PCR techniques are easily available, are fast, can be automatized, and are significantly less expensive than fluorescence in situ hybridization.

【 授权许可】

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