High specificity PCR screening for 22q11.2 microdeletion in three different ethnic groups
Braz. j. med. biol. res
;
36(10): 1359-1365, Oct. 2003. ilus, tab
Article
in English
| LILACS
| ID: lil-346499
ABSTRACT
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 percent. 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
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Genetic Testing
/
Polymerase Chain Reaction
/
DiGeorge Syndrome
/
Heart Defects, Congenital
Type of study:
Diagnostic study
/
Prognostic study
/
Screening study
Limits:
Female
/
Humans
/
Male
Language:
English
Journal:
Braz. j. med. biol. res
Journal subject:
Biology
/
Medicine
Year:
2003
Type:
Article
/
Project document
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade de Säo Paulo/BR
Similar
MEDLINE
...
LILACS
LIS