Abstract
Gyrate atrophy is a hereditary chorioretinal degeneration associated with a deficiency of ornithine aminotransferase (OAT). By means of a complementary DNA clone encoding human OAT, the OAT gene sequences were mapped by somatic cell hybrids and in situ hybridization to human chromosome regions 10q26 and Xp11.2. A review of 80 biochemically confirmed cases of gyrate atrophy confirmed the autosomal recessive inheritance of this disease and supported the presence of a functional OAT gene on chromosome 10. Interestingly, the X chromosomes OAT gene sequences (Xp11.2) map to the same region as L1.28 (Xp11.0-p11.3), a marker closely linked to X-linked recessive retinitis pigmentosa.
| Original language | English |
|---|---|
| Pages (from-to) | 1037-1042 |
| Number of pages | 6 |
| Journal | Investigative Ophthalmology and Visual Science |
| Volume | 28 |
| Issue number | 7 |
| State | Published - Aug 18 1987 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Ophthalmology
Cite this
Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp 11.2. / Barrett, D. J.; Bateman, J. B.; Sparkes, R. S.; Mohandas, T.; Klisak, I.; Inana, George.
In: Investigative Ophthalmology and Visual Science, Vol. 28, No. 7, 18.08.1987, p. 1037-1042.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp 11.2
AU - Barrett, D. J.
AU - Bateman, J. B.
AU - Sparkes, R. S.
AU - Mohandas, T.
AU - Klisak, I.
AU - Inana, George
PY - 1987/8/18
Y1 - 1987/8/18
N2 - Gyrate atrophy is a hereditary chorioretinal degeneration associated with a deficiency of ornithine aminotransferase (OAT). By means of a complementary DNA clone encoding human OAT, the OAT gene sequences were mapped by somatic cell hybrids and in situ hybridization to human chromosome regions 10q26 and Xp11.2. A review of 80 biochemically confirmed cases of gyrate atrophy confirmed the autosomal recessive inheritance of this disease and supported the presence of a functional OAT gene on chromosome 10. Interestingly, the X chromosomes OAT gene sequences (Xp11.2) map to the same region as L1.28 (Xp11.0-p11.3), a marker closely linked to X-linked recessive retinitis pigmentosa.
AB - Gyrate atrophy is a hereditary chorioretinal degeneration associated with a deficiency of ornithine aminotransferase (OAT). By means of a complementary DNA clone encoding human OAT, the OAT gene sequences were mapped by somatic cell hybrids and in situ hybridization to human chromosome regions 10q26 and Xp11.2. A review of 80 biochemically confirmed cases of gyrate atrophy confirmed the autosomal recessive inheritance of this disease and supported the presence of a functional OAT gene on chromosome 10. Interestingly, the X chromosomes OAT gene sequences (Xp11.2) map to the same region as L1.28 (Xp11.0-p11.3), a marker closely linked to X-linked recessive retinitis pigmentosa.
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UR - http://www.scopus.com/inward/citedby.url?scp=0023255426&partnerID=8YFLogxK
M3 - Article
C2 - 3596985
AN - SCOPUS:0023255426
VL - 28
SP - 1037
EP - 1042
JO - Investigative Ophthalmology and Visual Science
JF - Investigative Ophthalmology and Visual Science
SN - 0146-0404
IS - 7
ER -