April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Lack Of Association Of SNRNP200 With Retinitis Pigmentosa In Southern Chinese Population
Author Affiliations & Notes
  • Xin Zhang
    Ophthalmology & Visual Science, The Chinese University of Hong Kong, Hong Kong, Hong Kong
  • Pancy O. Tam
    Ophthalmology & Visual Science, The Chinese University of Hong Kong, Hong Kong, Hong Kong
  • Sylvia W. Chiang
    Ophthalmology & Visual Science, The Chinese University of Hong Kong, Hong Kong, Hong Kong
  • Timothy Y. Lai
    Ophthalmology & Visual Science, The Chinese University of Hong Kong, Hong Kong, Hong Kong
  • Lijia Chen
    Ophthalmology & Visual Science, The Chinese University of Hong Kong, Hong Kong, Hong Kong
  • Chi Pui Pang
    Ophthalmology & Visual Science, The Chinese University of Hong Kong, Hong Kong, Hong Kong
  • Footnotes
    Commercial Relationships  Xin Zhang, None; Pancy O. Tam, None; Sylvia W. Chiang, None; Timothy Y. Lai, None; Lijia Chen, None; Chi Pui Pang, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 5406. doi:
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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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Abstract

Purpose: : 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.

Methods: : 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.

Results: : 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.

Conclusions: : 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.

Keywords: genetics • retina: distal (photoreceptors, horizontal cells, bipolar cells) • gene screening 
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