4 research outputs found
HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3
Exclusion of chromosomal abnormalities and microdeletions 22q11 and 10p13 in algerian patients with isolated conotruncal malformation
The chromosomal abnormalities of number and structure or the 22q11.2 and 10p13-14 microdeletions are considered the main causes of congenital heart disease. In our best knowledge, cytogenetics studies on congenital heart diseases (CHD) have not been performed in Algeria. In this study, we will screen for chromosomal abnormalities and microdeletions of 22q11.2 and 10p13 in a cohort of Algerian patients. G-banded by trypsin Giemsa (GTG) and Fluorescent In Situ Hybridization (FISH) techniques have been performed to screen for chromosomal abnormalities and a critical regions 22q11.2 and 10p13-14 respectively in seventy patients with non syndromic congenital heart. GTG technique visualized no chromosomal abnormalities of number and structure in our patients. Moreover, FISH visualizing critical regions 22q11.2 and 10p13-14 respectively did not detect any microdeletion in the chromosomes 10 and 22 respectively of our patients. Our study could suggest that congenital heart defects observed in Algerian patients are not due to chromosomal abnormalities of number and structure nor the 22q11.2 and 10p13-14 microdeletions. For the fist time, we report here cytogenetics analysis of chromosomal abnormalities and the 22q11.2 and 10p13-14 microdeletions in Algerian patients with congenital heart disease. Genetic testing for screening for deletion 22q11.2 and 10p13-14 is not indicated in all patients with isolated conotruncal defects. In addition, conotruncal heart diseases have a multifactorial background like consanguinity and recessive mutations in some genes involved in cardiac morphogenesis. A genetic study to screen for the role of consanguineous marriages and some genes linked to CHD in Algerian population is on going. This study will focus also on health education for the families at risk about the importance of pre-marital genetic counseling.Π₯ΡΠΎΠΌΠΎΡΠΎΠΌΠ½ΡΠ΅ Π°Π½ΠΎΠΌΠ°Π»ΠΈΠΈ ΡΠΈΡΠ»Π° ΠΈ ΡΡΡΡΠΊΡΡΡΡ ΠΈΠ»ΠΈ ΠΌΠΈΠΊΡΠΎΠ΄Π΅Π»Π΅ΡΠΈΠΈ 22q11.2 ΠΈ 10p13-14 ΡΡΠΈΡΠ°ΡΡΡΡ Π³Π»Π°Π²Π½ΡΠΌΠΈ ΠΏΡΠΈΡΠΈΠ½Π°ΠΌΠΈ Π²ΡΠΎΠΆΠ΄Π΅Π½Π½ΠΎΠ³ΠΎ ΠΏΠΎΡΠΎΠΊΠ° ΡΠ΅ΡΠ΄ΡΠ°. ΠΠ°ΡΠΊΠΎΠ»ΡΠΊΠΎ Π½Π°ΠΌ ΠΈΠ·Π²Π΅ΡΡΠ½ΠΎ, ΡΠΈΡΠΎΠ³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΠ΅ ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΡ Π²ΡΠΎΠΆΠ΄Π΅Π½Π½ΠΎΠ³ΠΎ ΠΏΠΎΡΠΎΠΊΠ° ΡΠ΅ΡΠ΄ΡΠ° (CHD) Π² ΠΠ»ΠΆΠΈΡΠ΅ Π½Π΅ ΠΏΡΠΎΠ²ΠΎΠ΄ΠΈΠ»ΠΈΡΡ. Π Π½Π°ΡΡΠΎΡΡΠ΅ΠΉ ΡΠ°Π±ΠΎΡΠ΅ ΠΏΡΠΎΠ²Π΅Π΄Π΅Π½ ΡΠΊΡΠΈΠ½ΠΈΠ½Π³ Ρ
ΡΠΎΠΌΠΎΡΠΎΠΌΠ½ΡΡ
Π°Π½ΠΎΠΌΠ°Π»ΠΈΠΉ ΠΈ ΠΌΠΈΠΊΡΠΎΠ΄Π΅Π»Π΅ΡΠΈΠΉ 22q11.2 ΠΈ 10p13-14 Π² Π³ΡΡΠΏΠΏΠ΅ Π°Π»ΠΆΠΈΡΡΠΊΠΈΡ
ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ². ΠΠ΅ΡΠΎΠ΄Ρ ΠΎΠΊΡΠ°ΡΠΊΠΈ ΠΏΠΎ ΠΠΈΠΌΠ·Π° (GTG) ΠΈ FISH Π±ΡΠ»ΠΈ ΠΈΡΠΏΠΎΠ»ΡΠ·ΠΎΠ²Π°Π½Ρ Π΄Π»Ρ ΡΠΊΡΠΈΠ½ΠΈΠ½Π³Π° Ρ
ΡΠΎΠΌΠΎΡΠΎΠΌΠ½ΡΡ
Π°Π½ΠΎΠΌΠ°Π»ΠΈΠΉ ΠΈ ΠΊΡΠΈΡΠΈΡΠ½ΡΡ
ΡΡΠ°ΡΡΠΊΠΎΠ² 22q11.2 ΠΈ 10p13-14 ΡΠΎΠΎΡΠ²Π΅ΡΡΡΠ²Π΅Π½Π½ΠΎ Ρ 70 ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Ρ Π½Π΅ΡΠΈΠ½Π΄ΡΠΎΠΌΠ½ΡΠΌ Π²ΡΠΎΠΆΠ΄Π΅Π½Π½ΡΠΌ ΠΏΠΎΡΠΎΠΊΠΎΠΌ ΡΠ΅ΡΠ΄ΡΠ°. GTG Π½Π΅ Π²ΡΡΠ²ΠΈΠ»ΠΎ Ρ
ΡΠΎΠΌΠΎΡΠΎΠΌΠ½ΡΡ
Π°Π½ΠΎΠΌΠ°Π»ΠΈΠΉ ΠΏΠΎ ΡΠΈΡΠ»Ρ ΠΈ ΡΡΡΡΠΊΡΡΡΠ΅. ΠΠΎΠ»Π΅Π΅ ΡΠΎΠ³ΠΎ, ΠΈΠ·ΡΡΠ΅Π½ΠΈΠ΅ ΡΡΠ°ΡΡΠΊΠΎΠ² 22q11.2 ΠΈ 10p13-14 Π½Π΅ ΠΏΠΎΠΊΠ°Π·Π°Π»ΠΎ Π½ΠΈΠΊΠ°ΠΊΠΈΡ
ΠΌΠΈΠΊΡΠΎΠ΄Π΅Π»Π΅ΡΠΈΠΉ Π² Ρ
ΡΠΎΠΌΠΎΡΠΎΠΌΠ°Ρ
10 ΠΈ 22. ΠΠ°ΡΠΈ ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΡ ΠΏΠΎΠ·Π²ΠΎΠ»ΡΡΡ ΡΠ΄Π΅Π»Π°ΡΡ Π²ΡΠ²ΠΎΠ΄, ΡΡΠΎ Π΄Π΅ΡΠ΅ΠΊΡΡ, Π²ΡΠ·Π²Π°Π½Π½ΡΠ΅ Π²ΡΠΎΠΆΠ΄Π΅Π½Π½ΡΠΌ ΠΏΠΎΡΠΎΠΊΠΎΠΌ ΡΠ΅ΡΠ΄ΡΠ° Ρ Π°Π»ΠΆΠΈΡΡΠΊΠΈΡ
ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ², Π½Π΅ ΡΠ²ΡΠ·Π°Π½Ρ Π½ΠΈ Ρ Ρ
ΡΠΎΠΌΠΎΡΠΎΠΌΠ½ΡΠΌΠΈ Π°Π½ΠΎΠΌΠ°Π»ΠΈΡΠΌΠΈ ΡΠΈΡΠ»Π° ΠΈ ΡΡΡΡΠΊΡΡΡΡ, Π½ΠΈ Ρ ΠΌΠΈΠΊΡΠΎΠ΄Π΅Π»Π΅ΡΠΈΡΠΌΠΈ 22q11.2 ΠΈ 10p13-14. ΠΠΏΠ΅ΡΠ²ΡΠ΅ ΠΏΡΠΎΠ²Π΅Π΄Π΅Π½ ΡΠΈΡΠΎΠ³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΠΉ Π°Π½Π°Π»ΠΈΠ· Ρ
ΡΠΎΠΌΠΎΡΠΎΠΌΠ½ΡΡ
Π°Π½ΠΎΠΌΠ°Π»ΠΈΠΉ ΠΈ ΠΌΠΈΠΊΡΠΎΠ΄Π΅Π»Π΅ΡΠΈΠΉ 22q11.2 ΠΈ 10p13-14 Ρ Π°Π»ΠΆΠΈΡΡΠΊΠΈΡ
ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Ρ Π²ΡΠΎΠΆΠ΄Π΅Π½Π½ΡΠΌ ΠΏΠΎΡΠΎΠΊΠΎΠΌ ΡΠ΅ΡΠ΄ΡΠ°. ΠΠ΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠ΅ ΡΠ΅ΡΡΠΈΡΠΎΠ²Π°Π½ΠΈΠ΅ ΡΠΊΡΠΈΠ½ΠΈΠ½Π³Π° Π½Π° Π½Π°Π»ΠΈΡΠΈΠ΅ Π΄Π΅Π»Π΅ΡΠΈΠΉ 22q11.2 ΠΈ 10p13-14 Π½Π΅ ΠΏΠΎΠΊΠ°Π·Π°Π½ΠΎ Ρ Π²ΡΠ΅Ρ
ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Ρ Π²ΡΠΎΠΆΠ΄Π΅Π½Π½ΡΠΌ ΠΏΠΎΡΠΎΠΊΠΎΠΌ ΡΠ΅ΡΠ΄ΡΠ°. ΠΡΠΎΠΌΠ΅ ΡΠΎΠ³ΠΎ, ΠΊΠΎΠ½ΠΎΡΡΡΠ½ΠΊΠ°Π»ΡΠ½ΡΠ΅ Π±ΠΎΠ»Π΅Π·Π½ΠΈ ΡΠ΅ΡΠ΄ΡΠ° ΠΈΠΌΠ΅ΡΡ ΠΌΠ½ΠΎΠ³ΠΎΡΠ°ΠΊΡΠΎΡΠ½ΡΡ ΠΎΡΠ½ΠΎΠ²Ρ, ΡΠ°ΠΊΡΡ ΠΊΠ°ΠΊ Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠ΅ ΡΠΎΠ΄ΡΡΠ²ΠΎ ΠΈ ΡΠ΅ΡΠ΅ΡΡΠΈΠ²Π½ΡΠ΅ ΠΌΡΡΠ°ΡΠΈΠΈ Π½Π΅ΠΊΠΎΡΠΎΡΡΡ
Π³Π΅Π½ΠΎΠ², Π²ΠΎΠ²Π»Π΅ΡΠ΅Π½Π½ΡΡ
Π² ΠΊΠ°ΡΠ΄ΠΈΠ°Π»ΡΠ½ΡΠΉ ΠΌΠΎΡΡΠΎΠ³Π΅Π½Π΅Π·. ΠΡΠΎΠ²ΠΎΠ΄ΠΈΡΡΡ Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠ΅ ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΠ΅ ΡΠΎΠ»ΠΈ Π±Π»ΠΈΠ·ΠΊΠΎΡΠΎΠ΄ΡΡΠ²Π΅Π½Π½ΡΡ
Π±ΡΠ°ΠΊΠΎΠ² ΠΈ Π½Π΅ΠΊΠΎΡΠΎΡΡΡ
Π³Π΅Π½ΠΎΠ², ΡΠ²ΡΠ·Π°Π½Π½ΡΡ
Ρ Π²ΡΠΎΠΆΠ΄Π΅Π½Π½ΡΠΌ ΠΏΠΎΡΠΎΠΊΠΎΠΌ ΡΠ΅ΡΠ΄ΡΠ°, Π² Π°Π»ΠΆΠΈΡΡΠΊΠΎΠΉ ΠΏΠΎΠΏΡΠ»ΡΡΠΈΠΈ. ΠΡΠΎ ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΠ΅ Π±ΡΠ΄Π΅Ρ ΡΠ°ΠΊΠΆΠ΅ ΡΡΠΎΠΊΡΡΠΈΡΠΎΠ²Π°Π½ΠΎ Π½Π° ΠΏΡΠΎΡΠΈΠ»Π°ΠΊΡΠΈΡΠ΅ΡΠΊΠΎΠΉ ΡΠ°Π±ΠΎΡΠ΅ Π² ΡΠ΅ΠΌΡΡΡ
Ρ ΡΠ°ΠΊΡΠΎΡΠ°ΠΌΠΈ ΡΠΈΡΠΊΠ° ΠΈ Π½Π° Π²Π°ΠΆΠ½ΠΎΡΡΠΈ Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΠΊΠΎΠ½ΡΡΠ»ΡΡΠΈΡΠΎΠ²Π°Π½ΠΈΡ ΠΏΠ΅ΡΠ΅Π΄ Π²ΡΡΡΠΏΠ»Π΅Π½ΠΈΠ΅ΠΌ Π² Π±ΡΠ°ΠΊ