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>
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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