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Genetic and prenatal diagnosis of a retinitis pigmentosa pedigree / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 184-187, 2018.
Article in Chinese | WPRIM | ID: wpr-687982
ABSTRACT
<p><b>OBJECTIVE</b>To explore the genetic etiology of a pedigree affected with hereditary retinitis pigmentosa.</p><p><b>METHODS</b>High-throughput DNA sequencing was used to analyze the sequences of 173 genes associated with hereditary eye diseases in the proband. Suspected mutation was verified with PCR amplification and Sanger sequencing.</p><p><b>RESULTS</b>The proband was found to have carried a c.570_571 ins GAAGATGCTGT insertional mutation in the RP2 gene located on the X chromosome. All female carriers of the pedigree were heterozygous, while all affected males were hemizygous for the same mutation.</p><p><b>CONCLUSION</b>The inheritance pattern of this retinitis pigmentosa pedigree was X-linked recessive. The c.570_571 ins GAAGATGCTGT insertional mutation of the RP2 gene probably underlies the disease.</p>
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / Prenatal Diagnosis / Retinitis Pigmentosa / Genetic Diseases, X-Linked / Intracellular Signaling Peptides and Proteins / Eye Proteins / High-Throughput Nucleotide Sequencing / Genetics / Membrane Proteins Type of study: Diagnostic study Limits: Female / Humans / Male / Pregnancy Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2018 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / Prenatal Diagnosis / Retinitis Pigmentosa / Genetic Diseases, X-Linked / Intracellular Signaling Peptides and Proteins / Eye Proteins / High-Throughput Nucleotide Sequencing / Genetics / Membrane Proteins Type of study: Diagnostic study Limits: Female / Humans / Male / Pregnancy Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2018 Type: Article