HUM-MOLGEN DIAGnostics/Clinical Research

5 December 1996
DIAG: RP3 mutation studies

Dear Colleague,

I am counselling a family (GF0672) with X-linked retinitis pigmentosa. The probability that the gene responsible is located between RP2 and RP3 is 99%, but there are no recombinants between the two genes and hence I do not know which gene is invloved. The family are VERY keen to have mutation studies performed to clarify carrier risks and enable accurate prenatal diagnosis.
Is anyone offering to do RP3 mutation studies? If so, how much would it cost? Would you require a cell line for preparing RNA? If there is prepayment, would you offer a discount for RP2 mutation studies once that gene is cloned!
Thank you for your assistance.

Dr Graeme Suthers
SA Clinical Genetics Service
Centre for Medical Genetics
Women's & Children's Hospital
North Adelaide SA 5006
tel (08) 8204 7375 (International prefix -61-8-) NEW!
fax (08) 8204 6088 (International prefix -61-8-) NEW!
email (Using MSmail)