5/24/2014

Synopsis

AMITY UNIVERSITY
-----UTTAR PRADESH-----

Amity Institute of Biotechnology

MAJOR PROJECT - 12 - 14 WEEKS
Student Name
Enrollment No

Vishakha Thirth Dasni

A0504110063

Programme

B.Tech. - Biotech

Company's Name and

Address

SGPGIMS
Raebareily Road, Lucknow
226014

Industry Guide
Name

Dr. Shubha R Phadke

Designation

HOD & Professor

Contact Number
Ph.(O) : 0522 266 8700

(R):

Mobile :
Fax :
E-mail : shubharaophadke@gmail.com
Project Information
1) Project Duration : (70 Days)
a) Date of Summer Internship commencement (24/03/2014)
a) Date of Summer Internship Completion (01/06/2014)
2) Topic
Identification of Pathogenic mutation with Robinow Syndrome
3) Project Objective
To find out pathogenic mutation in North Indian patient with Robinow syndrome.
4) Methodology to be adopted

https://amizone.net/Amizone/WebForms/Internship/IntershipSynopsis.aspx?CID=144153

1/2

5/24/2014

Synopsis

DNA Extraction, DNA Quantification, PCR, Agarose Gel Electrophoresis and DNA Sequencing are
the techniques used to find out the pathogenic mutation in the patient.
5) Brief Summary of project(to be duly certified by the industry guide)
Robinow syndrome is an autosomal recessive disorder due to mutation in the ROR2 gene. Various
distinct homozygous and compound heterozygous mutations like missense, nonsense, frameshift
mutations were known to cause ARRS. Many previously reported mutations fall in two different groups.
The first group contained mutations in the FRZ, KD and TK domains and the second group
contained terminating mutations in the Ig-like domain. The mutations are scattered throughout the ROR2
but were mainly found in the hotspot exons 5 and 9.

Signature
(Student)

Signature
(Industry Guide)

https://amizone.net/Amizone/WebForms/Internship/IntershipSynopsis.aspx?CID=144153

Signature
(Faculty Guide)

2/2