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Xin Zhang, Pancy O. Tam, Sylvia W. Chiang, Timothy Y. Lai, Lijia Chen, Chi Pui Pang; Lack Of Association Of SNRNP200 With Retinitis Pigmentosa In Southern Chinese Population. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5406.
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The p.S1087L and p.R1090L located in SNRNP200 sec-63 domain were reported to cause autosomal dominant retinitis pigmentosa (adRP) in two unrelated northern Chinese families. We investigated this association with a Chinese cohort in southern China of adRP Chinese families, cases and controls.
20 patients from 11 Chinese autosomal dominant retinitis pigmentosa families, and a group of 165 non-syndromic-RP patients with mixed inherited pattern were studied for SNRNP200 mutations. DNA fragments of exon 22-29 of SNRNP200, covering the whole sec-63 domain encompassing p.S1087L and p.R1090L mutations, were amplified by polymerase chain reaction (PCR) followed by by direct DNA sequencing.
A total of six variants were identified. Two (p. L1184L and p. S1218S) were common SNPs at high frequencies (28.7% and 8.4%, respectively) among the control subjects. Four were novel variants, among which three were intronic. c.3365+145G>A and c.3366-25A>G each found in one patient, while c.3639+53_c.3639+93del was found in one control subject. Another novel variant p.S1230S leads to a synonymous amino acid change was found in another patient. The reported mutations, p.S1087L and p.R1090L, however, were not found in all our study subjects.
Our results show that sec-63 domain of the SNRNP200 gene does not cause or associate with adRP or sporadic RP in our southern Chinese cohort. This study does not provide support for a role of the SNRNP200 gene in RP.
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