| You are in:Home/Publications/Evaluation of loss of heterozygosity of chromosome 22q11.21 region in patients with congenital heart diseases | |
Dr. Amr Elsayed Mohamed Alnagar :: Publications: |
|
| Title: | Evaluation of loss of heterozygosity of chromosome 22q11.21 region in patients with congenital heart diseases |
| Authors: | Eman G. Behiry , Azza A. Abo Senna , Amr E. Elnagar , Magda A. Eshiesh |
| Year: | 2018 |
| Keywords: | 22q11.21 Microdeletion Congenital heart defects STR markers |
| Journal: | The Egyptian Heart Journal |
| Volume: | 70 |
| Issue: | Not Available |
| Pages: | 267=270 |
| Publisher: | Not Available |
| Local/International: | International |
| Paper Link: | Not Available |
| Full paper | Amr Elsayed Mohamed Alnagar_EHJ (2).pdf |
| Supplementary materials | Not Available |
| Abstract: |
The 22q11.21 region is prone to low-copy repeats events that lead to congenital anomaly disorders. We tested genomic DNA of 20 families with non-syndromic CHD patients using a set of three known consecutive high polymorphic short tandem repeat (STR) markers along the 22q11.21 region; D22S941, D22S944 and D22S264 loci. We found loss of heterozygosity (LOH) in D22S941 locus in 2 out of 20 families (10%) with 2 offspring affected by ASD combined with PS and TOF respectively. No LOH found in D22S944 and D22S264 loci either in affected cases or control group and no LOH found in D22S941 in the control group. Also we observed that D22S944 locus prone to be less allele diversity than D22S941 and D22S264 loci. |
