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A new locus in chromosome 2q37-qter is associated with posterior polar cataract

  • Pathology
  • Published:
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Abstract

Purpose

To study the genetic basis of autosomal dominant posterior polar cataracts in two Chinese pedigrees.

Materials and methods

Peripheral blood samples were collected and genomic DNA was isolated. A genome-wide scan, using microsatellite markers at approximately 10-cm intervals and additional microsatellite markers for the positive region, was performed. Haplotype data were processed using Cyrillic software (version 2.1) to define the region of the disease gene. Mutation analysis was carried out for candidate genes. Sequencing data were analyzed with the software Sequence Scanner v1.0.

Results

A maximum two-point LOD score (Z max) of 2.53 and 2.03 was obtained at marker D2S125 with recombination θ = 0.00 in the two families. The possible disease genes were located at approximately 8.44-cM between the marker D2S125 and the terminal of chromosome 2q, namely, 2q37-qter. Candidate genes, such as Gamma-crystallins (CRYGA-D), septin 2 (SEPT2), aquaporin 12B (AQP12B), and chemokine orphan receptor 7 (CXCR7), were sequenced but no causative mutations were found.

Conclusions

Our results suggest that an unidentified gene in chromosome 2q37-qter is associated with posterior polar cataract, which may have an implication in understanding the genetic and molecular mechanisms of cataracts.

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Acknowledgements

We thank the family members involved in the study for taking part in the study.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

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Authors and Affiliations

  1. Eye Hospital, The First Affiliated Hospital, Harbin Medical University, 23 Youzheng Road, Harbin, 150001, China

    Shan Ouyang, Lu Zhang, Yi Zheng, Wenping Cao & Ping Liu

  2. Bio-X Center, Shanghai Jiao Tong University, Shanghai, 200240, China

    Linhan Gao, Guoyin Feng & Lin He

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  1. Shan Ouyang
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  2. Linhan Gao
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  3. Lu Zhang
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  4. Yi Zheng
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  5. Wenping Cao
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  6. Guoyin Feng
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  7. Lin He
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  8. Ping Liu
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Correspondence to Ping Liu.

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Ouyang, S., Gao, L., Zhang, L. et al. A new locus in chromosome 2q37-qter is associated with posterior polar cataract. Graefes Arch Clin Exp Ophthalmol 250, 907–913 (2012). https://doi.org/10.1007/s00417-011-1781-y

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  • DOI: https://doi.org/10.1007/s00417-011-1781-y

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