I submitted the following one page paper to Nucleic Acids Research, which
starting with January 1992, created a new journal where papers regarding human
DNA polymorphisms are going to be published. The new journal, called "Human
Molecular Genetics" requires an accession number from the EMBL database.
Therefore, I am sending you the submitted manuscript containing the data.
Please let me know if this information is sufficient for you to provide me
with an accession number or otherwise what your advice in this matter would be.
Thank you for time. I am providing you with both addresses of the journal for
Sincerely, Angelika Bodenteich.
Human Molecular Genetics
Southfield Road, Eynsham, Oxford OX8 1JJ, UK
Tel.:(0865) 882283 ; Telex: 837330 OXPRES, Fax: (0865) 882890
PO Box Q or 6819 Elm Street
McLean, VA 22101, USA
Tel.:(703) 356 4301, Fax(703) 356 4303
------------------------ copy of manuscript --------------------------
Dinucleotide repeat in the human mitochondrial D-loop
Angelika Bodenteich, Lloyd G. Mitchell, Mihael H. Polymeropoulos, Carl R.
Lab. of Biochemical Genetics, Nat. Inst. of Mental Health, Washington, DC
Source, Description and Method: We now report a short dinucleotide repeat
polymorphism which occurs at position 514 in the D-loop region of the human
mitochondrial genome (1). A 2 bp deletion (2) and a 2 bp insertion (3) have
been previously reported at that site. To study the polymorphic nature of this
AC repeat, the mitochondrial genomes of 68 unrelated individuals were examined
along with the members of two CEPH families.
Forward: 5'-CTCCCATACTACTAATCTCA-3' (AC strand)
Reverse: 5'-TTGAGGAGGTAAGCTACATA-3' (GT strand)
Frequency: In 68 unrelated individuals we found the following frequencies:
Maternal inheritance was demonstrated in CEPH pedigree 02.
Comments: PCR was perfomed with DNA obtained from blood, platelets or retina
using 100 ng of each of the primers in a 100 ul volume and incubated for 27
cycles (50 sec at 94 C, 45 sec at 56 C, 55 sec at 72 C). The length of each PCR
product was determined by electrophoresis on 6 % denaturing polyacrylamide
We thank Dr. Hong Xiao for helpful discussions.
References: 1) Anderson, S. et al. (1981) Nature 290, 457-465. 2)Greenberg,
B.D.et al. (1983) Gene 21, 33-49. 3) Bodenteich, A. et al. (1991) Gene, in