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A rapid and simple DNA fingerprinting method using RLFP and SSCP analysis of the hypervariable noncoding region of human mitochondrial DNA
Author(s) -
Pushnova Elena A.,
Akhmedova Sofia N.,
Shevtsov Sergey P.,
Schwartz Eugene I.
Publication year - 1994
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380030318
Subject(s) - biology , hypervariable region , mitochondrial dna , dna , genetics , computational biology , dna sequencing , simple (philosophy) , dna profiling , single strand conformation polymorphism , microbiology and biotechnology , polymerase chain reaction , gene , philosophy , epistemology
A simple method for identification of individuals and maternity testing has been developed. This technique includes PCR amplification of the 199‐bp hypervariable portion of the noncoding region of human mtDNA, digestion with Rsa I and subsequent SSCP analysis of restriction fragments with DNA silver staining. Using this approach we have analysed the DNA fingerprint patterns of the family members. The fingerprints of maternally related individuals appeared to be identical in three generations, while maternally unrelated members of the family showed differences in their fingerprints, either in SSCP or both RFLP and SSCP patterns. Sequencing data have confirmed the results obtained. Further DNA fingerprinting analysis of 19 unrelated mother–child pairs by means of the method described revealed complete identity of the fingerprint patterns within the pairs. The probability of a random fingerprint match for two maternally unrelated individuals was estimated as 8%. © 1994 Wiley‐Liss, Inc.