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Single nucleotide polymorphisms (SNPs) within Bov‐A2 SINE in the second intron of bovine and buffalo k‐casein ( CSN3 ) gene
Author(s) -
Damiani G,
Florio S,
Budelli E,
Bolla P,
Caroli A
Publication year - 2000
Publication title -
animal genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.756
H-Index - 81
eISSN - 1365-2052
pISSN - 0268-9146
DOI - 10.1046/j.1365-2052.2000.00640.x
Subject(s) - biology , genetics , intron , single nucleotide polymorphism , gene , microbiology and biotechnology , restriction fragment length polymorphism , nucleic acid sequence , polymerase chain reaction , genotype
The genetic polymorphism of an entire Bov‐A2 element located in the second intron of the buffalo and bovine k‐casein ( CSN3 ) gene was investigated by amplification and sequencing of PCR products. Single nucleotide polymorphisms were detected. A PCR‐RFLP method was developed to detect an A or G mutation at position 605 of bovine Bov‐A2 element which creates a Bfa I polymorphic site. The frequencies of the B allele, with the Bfa I site, were for 0·275, 0·775, 0·750, 0·975, respectively, for Italian Holstein Friesian, Grey Alpine, Friuli Red Pied and Reggio bovine breeds. The mutation rate (substitutions and deletions/insertions per nucleotide site per year) was 2·5 × 10−9 for Bov‐A2 sequences in the second intron of CSN3 . The comparison with other Bov‐A2 elements suggests that this retroelement might be an important source of single nucleotide polymorphism for analysis of Bovidae genomes.

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