1 / 17

A novel missense mutation in EDA gene underlies X-linked non-syndromic hypodontia

A novel missense mutation in EDA gene underlies X-linked non-syndromic hypodontia. Muhammad Ayub Asst.Professor in Biochemistry University of Balochistan Quetta. Causes of Human Genetic Disorders. Consanguineous Marriage Social Custom Lack of Awareness.

alec
Download Presentation

A novel missense mutation in EDA gene underlies X-linked non-syndromic hypodontia

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. A novel missense mutation in EDA gene underlies X-linked non-syndromic hypodontia Muhammad Ayub Asst.Professor in Biochemistry University of Balochistan Quetta

  2. Causes of Human Genetic Disorders • Consanguineous Marriage • Social Custom • Lack of Awareness

  3. Syndromic and non-syndromic teeth anomalies • Hypodontia • Oligodontia • Anodontia

  4. Mode of Inheritance • Autosomal dominant • Autosomal recessive • X-linked recessive

  5. Genes in tooth agenesis • PAX9,MSX1, AXIN2 are already known for autosomal dominant/recessive tooth abnormalities • EDA is known for X-linked recessive non-syndromic hypodontia

  6. Methods • Pedigree • Blood sampling • EDTA Vacutainer • Genomic DNA extraction • Phenol-chloroform method • Polymerase chain reaction • Genotyping • DNA sequencing

  7. Pedigree

  8. Clinical Features

  9. Methods • Blood sampling • EDTA Vacutainer • Genomic DNA extraction • Phenol-chloroform method • Polymerase chain reaction • Genotyping • DNA sequencing

  10. Methods • Genotyping of five generations Pakistani family with X-linked isolated hypodontia was ascertained • Linkage through microsatellite markers was established on Xq12-q13.1 • DNA sequence analysis (ABI 310 Genetic Analyzer) revealed a novel mutation in exon 8 (c.993G>C, p.Q331H)

  11. Linkage to Xq12-q13.1

  12. EDA gene sequencing H Q/H Q

  13. Conservation ofQ aa at 331in EDA tumor necrosis factor

  14. EDA gene mutations so far

  15. Ayub M, Rehman FU, Yasinzai M, Ahmad W. A novel missense mutation in the EDA gene underlies X-linked recessive non-syndromic hypodontia. Int J Dermatol (in press) impact factor 1.5

  16. AKNOLEDGMENTS Prof. Dr. Masoom Yasinzai Supervisor, Yasinzai,Vice Chancellor Quaid-i-Azam university islamabad Prof. Dr. Wasim Ahmad, Co-supervisor QAU, Islamabad Lab fellows The Family members who participated in the study

  17. Thank you

More Related