GenBank-Updates@genbank.bio.net (09/22/90)
LOCUS HUMHEXBX 444 bp ds-DNA PRI 22-SEP-1990
DEFINITION Human beta-N-acetylhexosaminidase (HEXB) gene, 5' flank.
ACCESSION M37468
KEYWORDS beta-N-acetylhexosaminidase.
SOURCE Human leukocyte DNA, clone pHexBSEO.6 and pHexBHX5.
ORGANISM Homo sapiens
Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia;
Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE 1 (bases 1 to 444)
AUTHORS Neote,K., McInnes,B., Mahuran,D.J. and Gravel,R.A.
TITLE Structure and distribution of an ALU-type deletion mutations in
Sandhoff disease
JOURNAL J. Clin. Invest. (1990) In press
STANDARD full staff_entry
COMMENT Draft entry and computer-readable sequence for [1] kindly submitted
by K.S.Neote, 01-AUG-1990.
Sequence of the 5' flanking region of the HEXB gene, approximately
2 kb upstream of exon 1; includes an Alu-repeat that is involved in
a deletion mutation.
FEATURES from to/span description
rpt 87 415 Alu repeat
rpt 87 97 direct repeat flanking Alu sequence
rpt 405 415 direct repeat flanking Alu sequence
site 98 120 Poly-A like structure in Alu sequence
site 270 404 left arm of Alu sequence
site 121 269 right arm of Alu sequence
BASE COUNT 93 a 106 c 109 g 136 t
ORIGIN Chromosome 5.
1 acctctttat ggctggctcc tacagaaaga cacggcaaga ttagagtaat atttctagat
61 tttatgactg gctttggggg cataggggct ctagtttctt cttttttttt ttttctttct
121 gagacagagt cttactctgt ggcacaggct ggagtgcagt ggtgcaatct cggctcactg
181 caacctctgc ctcccaggtt caagtgattc ttgtgcctca gccacccaag tagctgggat
241 tacgggcgtg tgccagcaca tccagctaat ttttgtattt ttagtagaga tgaggtttca
301 ccatgttggc caggctggtc tcgaactcct ggccttaagt gatccacctg ccttggcctc
361 ccaaagtgct gggattacag gcgtgagcca ccatgcccaa cagtggctct agtttctgtg
421 acccattttg aaaaagagga attc
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