5 December 1996
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.