Characteristics of a DNA probe (pa3'HVR) when used for paternity testing.

DNA probes that detect polymorphic loci in the human genome are finding widespread application in many areas of genetic testing. Paternity testing represents one area for the application of probe technology; this report presents data obtained in a paternity testing program with a probe (pa3'HVR) derived from a locus (D16S85) approximately 8 kilobases (kb) downstream from the alpha globin gene complex on chromosome 16. The pa3'HVR probe used under stringent conditions of hybridization detects a highly polymorphic locus in chromosomal DNA digested with Pvu 2 restriction endonuclease. Alleles at the D16S85 locus were grouped into 58 size bins differing from one another by 100 base pairs in the black and white populations. The most common alleles detected in whites fell into the 2.3-kb group with a collective frequency of 0.1849. In blacks, the most common allele group is 2.0 kb with a collective frequency of 0.1333. The probe was used for restriction fragment length polymorphism mapping in conjunction with standard paternity testing techniques in 100 paternity cases. Thirty direct exclusions were encountered in the 100 cases with standard testing methods, versus 27 exclusions with the pa3'HVR probe alone. Four exclusions detected with standard methods were not detected with the probe and one exclusion detected with the probe was missed by standard testing. The probability of excluding a falsely accused man by use of the pa3'HVR probe was approximately 90 percent. In cases where exclusions were not encountered, the data obtained with the pa3'HVR probe increased the paternity index calculated from standard testing by about 16-fold.2+ informative for paternity testing.