Mapping the breakpoints of an individual with congenital glaucoma and a 6:13 translocation
- Univ. of Iowa, Iowa City, IA (United States); and others
We have identified an individual with a balanced translocation involving the short arm of chromosome 6 (6p25) and the long arm of chromosome 13 (13q22). This person was found to have congenital glaucoma along with other anomalies. The identification of a second individual with both congenital glaucoma and an unbalanced translocation involving the distal short arm of chromosome 6 suggested that this region of chromosome 6 might be involved in at least some cases of congenital glaucoma. Therefore, we wished to characterize the two breakpoints with an emphasis on the 6p25 breakpoint. Somatic cell hybrids were used to isolate the two translocated chromosomes away from the normal 6 and 13. Two hybrids were identified which contained the distal region of chromosome 6p, while a third hybrid contained the reciprocal translocated chromosome. Characterization of the hybrids demonstrated that the breakpoint on chromosome 6p lies between the markers D6S344 and D6S477, while the chromosome 13 breakpoint lies between the markers D13S160 and D13S170. The distances between the flanking markers on both of the chromosomes are less than 5 cM. The lack of genetic markers within the 6p25 region made it difficult to accurately map the location of the breakpoint in this region. However, we were able to demonstrate that at least two markers are distal to the 6p25 breakpoint. We are working to improve the quality of both the genetic and physical maps of 6p25 and 13q22 in an attempt to further refine the localization of the breakpoints. Preliminary work on the individual with the unbalanced translocation suggests that the 6p deletion in this person includes the 6p25 breakpoints.
- OSTI ID:
- 134088
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0824
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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