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Bor, Pınar; Hindkjær, Johnny; Ingerslev, Hans Jakob; Kølvraa, Steen

doi:10.1023/a:1016618418319

Cited by 22 publications

(1 citation statement)

References 38 publications

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“…In order to detect male infertility, many PCR experiments for DNA genes are required, because there are many essential genes on the Y chromosome required for virility. 9) To shorten the time of Yq microdeletion analysis in an infertile male, multiplex PCR is preferable. The microdeletions of the arm of the Y chromosome are associated with spermatogenic failure and have been used to define three regions, AZFa, AZFb, and AZFc, on Yq that are critical for spermatogenesis.…”

Section: Multiplex Pcr For Diagnosis Of Male Infertilitymentioning

confidence: 99%

Separation-Type Multiplex Polymerase Chain Reaction Chip for Detecting Male Infertility

Ahn

et al. 2008

jjap

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A novel polymerase chain reaction (PCR) biochip is presented in this paper. In this PCR chip, the glass substrate integrated with the microheater and microsensor is separable from the reaction chamber where the sample is injected, which now makes repeated reuse of the glass substrate possible. The heat transfer efficiency and target gene amplification of the proposed separable PCR chip was compared with that of the conventional united PCR chip. The results showed that the sex-determining Y chromosome (SRY) gene PCR for detecting male infertility was successfully performed in the separable chip. However, repeated multiplex PCR was successful for only two genes, SPGY1 and SRY, but not for gene SY586. Future work is needed for a multiplex PCR with more than three genes.

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Section: Multiplex Pcr For Diagnosis Of Male Infertilitymentioning

confidence: 99%

Separation-Type Multiplex Polymerase Chain Reaction Chip for Detecting Male Infertility

Ahn

et al. 2008

jjap

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show abstract

Sensitivity of multiplex real-time PCR reactions, using the LightCycler and the ABI PRISM 7700 Sequence Detection System, is dependent on the concentration of the DNA polymerase

Exner

Lewinski

2002

Molecular and Cellular Probes

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RPE65 gene: Multiplex PCR and mutation screening in patients from India with retinal degenerative diseases

Joseph

Srinivasan

Soumittra

et al. 2002

J Genet

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We used multiplex PCR follwed by sequencing to screen for mutations in the 14 exons of the RPE65 gene in early-childhood-onset autosomal recessive retinitis pigmentosa (arRP) and Leber's congenital amaurosis (LCA) patients. The RPE65 protein is believed to play an important role in the metabolism of vitamin A in the visual cycle and mutations identified in the gene could have implications for vitamin A-based therapeutic intervention. We were able to identify a homozygous mutation (AAT --> AAG) in exon 9 in an arRP patient and a heterozygous missense transversion (AAT --> AAG) also in exon 9 of an LCA patient. We also identified a polymorphism in exon 10 (GAG --> GAA) in an arRP as well as an LCA patient. Mutation screening would be greatly facilitated by multiplex PCR which could cut down costs, labour and time involved. The nucleotide changes observed in this study could be de novo. Though a larger study has been undertaken, from the preliminary results it appears that in India the RPE65 gene seems to be less involved in causation of LCA.

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Abstract: The multiplex PCR protocol presented in this study is an easy and reliable method for detection of Y chromosome microdeletions and could be used for screening of infertile men to allow genetic counseling about the risk of transmitting infertility from father to son.

Cited by 22 publications

References 38 publications

Separation-Type Multiplex Polymerase Chain Reaction Chip for Detecting Male Infertility

Separation-Type Multiplex Polymerase Chain Reaction Chip for Detecting Male Infertility

Sensitivity of multiplex real-time PCR reactions, using the LightCycler and the ABI PRISM 7700 Sequence Detection System, is dependent on the concentration of the DNA polymerase

RPE65 gene: Multiplex PCR and mutation screening in patients from India with retinal degenerative diseases

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