Can I read Somatic and gonadal mosaicism in X-linked retinitis pigmentosa on EtoBox?

Somatic and gonadal mosaicism in X-linked retinitis pigmentosa by Zi-Bing Jin; Feng Gu; Hirokazu Matsuda; Nobuhiro Yukawa; Xu Ma; Nobuhisa Nao-i is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Somatic and gonadal mosaicism in X-linked retinitis pigmentosa about?

## Abstract The g.ORF15 + 652–653delAG mutation in the __RPGR__ gene is the most frequent mutation in X‐linked retinitis pigmentosa (XLRP). The objective of this study was to investigate the possibility of mosaicism in an XLRP family. Eight subjects in the RP family were recruited. Blood samples were collected for DNA extraction. Haplotype analysis and mutational screening on the __RPGR__ gene were performed. Additionally, samples of hair follicles and buccal cells from the mother of the proband were acquired for DNA extraction and molecular analysis. Phenotype was characterized with routine ophthalmic examination, Goldmann perimetry, electroretinography, and color fundus photography. A g.ORF15 + 652–653delAG mutation was identified in second‐ and third‐generation patients/carriers. A first‐generation female, who was considered to be an obligate carrier, demonstrated a normal phenotype as well as a normal genotype in lymphocytic DNA, indicating the gonadal mosaicism; however, a heterozygous AG‐deletion at nucleotide 652 and 653 was identified in the genomic DNA of hair follicles, hair shaft, and buccal cells, indicating that the mutation is somatic. In conclusion, we reported on a

Who reads Somatic and gonadal mosaicism in X-linked retinitis pigmentosa?

Author

Zi-Bing Jin; Feng Gu; Hirokazu Matsuda; Nobuhiro Yukawa; Xu Ma; Nobuhisa Nao-i

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 1552-4825)

Published

2007

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)