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Analysis of TMCO1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0160-LGZ)

Introduction

Also known as: PCIA3; TMCC4; CFSMR1; HP10122; PNAS-136<br />This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and cognitive disability. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described.




Principle

Quantitative reverse transcription PCR (RT-qPCR) is an experimental method applied to PCR experiments using RNA as the starting material. In this method, total or messenger RNA (mRNA) is first transcribed into complementary DNA (cDNA) by reverse transcriptase. Subsequently, qPCR reaction was performed using cDNA as template.

Applications

Cryptorchidism, Rib fusion, Cleft palate, Severely reduced visual acuity, Autism, Sensorineural hearing loss disorder, Abnormal sternum morphology, Bilateral cleft palate, Renal agenesis, Unilateral renal agenesis, Global developmental delayRelative macrocephaly, Strabismus, Scoliosis, Hemivertebrae, Bilateral cleft lip, Pulmonic stenosis, Delayed speech and language development, Bilateral cleft lip and palate, Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development

Procedure

1. Sample processing and preparation of PCR reaction system.
2. Add the amplification template, cover the PCR reaction cover, mix well, centrifuge at low speed instantaneously, and transfer to the PCR instrument.
3. Set the program for PCR amplification.
4. Data analysis.

Materials

Sample: depends on the customer's analysis requirements