Cromozomii

umani 21,22

Realizat gr 1122
 Analiza comparativa a crs 21 si 22

Crs 21 Crs 22
●
Autosom ●
Autosom
●
47 mil. nucleotide ●
49,5 mil. nucleotide
●
1,5% din totalul de gene ●
1,5-2% din totalul de gene
●
Detine 200-400 gene ●
Detine 693 gene
●
Sindroame si boli asociate: s.Down, ●
Sindroame si boli
boala Alzheimer tip I, s. Sintezei asociate:Schizofrenia,s.Ochiului de
Deficente a Pisica, Cancer glandei
Holocarboxilazei,Surditatea mamare,cromozomul
asindromatica s.a. Philadelphia,s.a.
 Genele din cadrul crs 21 si 22

Crs 21
Crs 22
●
APP: amyloid beta (A4) precursor protein ●
TBX1:T-box 1;
(peptidase nexin-II, Alzheimer disease); ●
RTN4R: Reticulon 4 receptor;
●
CBS: cystathionine-beta-synthase; ●
COMT:catechol-O-methyltransferase gene;
●
CLDN14: claudin 14; ●
NEFH:neurofilament, heavy polypeptide 200kDa;
●
HLCS: holocarboxylase synthetase (biotin- ●
CHEK2:CHK2 checkpoint homolog (S. pombe);
(proprionyl-Coenzyme A-carboxylase (ATP- ●
NF2:neurofibromin 2;
hydrolysing)) ligase); ●
SOX10:SRY (sex determining region Y)-box 10;
●
KCNE1: potassium voltage-gated channel, Isk-
related family, member 1;
●
EP300:E1A binding protein p300;
●
KCNE2: potassium voltage-gated channel, Isk-
●
WNT7B:Wingless-type MMTV integration site
related family, member 2; family, member 7B;
●
LAD: leukocyte adhesion deficiency (symbols are
●
SHANK3:SH3 and multiple ankyrin repeat
ITGB2, CD18, LCAMB) domains 3;
 Sindrom Down
• Trisomia 21
• Nou-nascut cu talie si greutate sub norma;
• Dismorfie cranio-faciala;
• Retard mintal;
• Hipotonie musculara;
• Hipoacuzia si surdidatea 50%;
• Malformatii congenitale cardiovasculare;
• Pliu palmar transvers unic;
 Sindrom Down
• 21 martie ziua mondiala dedicata acestui sindrom;
• 1 caz la 700 nasteri;
• Riscuri asociate cu virsta mamei:20-29 ani:1/2000;30
ani:1/1000; 35 ani 1/360; 40 ani:1/106; 45 ani 1/35;
• Speranta de viata 55 ani;
• 25-30% mor in primul an; 50% in primii 5 ani;2-6%
peste 50 ani;
• Barbati-sterili; femei fertile;
• Prezinta talente si abilitati deosebite;
• Majoritatea invata o profesie, si duc o viata
independenta;
 Sindromul Phelan-McDermid
• Deletie 22q13;
• Capacitatea de a vorbi absenta sau intirziata;
• Hipotonie;
• Toleranta crescuta la durere;
• Barbie ascutita;
• Dolicocefalie;
• Dereglari de termoreglare;
• Tulburari grave de comportament;
 Cromozomul Philadelphia
• Translocatie reciproca t(9/22);
• Leucemia mielodica cronica;
• Gena Tirozin kinazei afectata;
• Pacientii cu LMC sunt vulnerabili la infectii,
hemoragii si la alte probleme potential fatale;
• Tratament:
• Terapie cu inhibitori ai tirozin kinazei;
• Transplantul;
• Cel mai mare pacat fata de
oameni, nu este ura..ci indiferenta
fata de ei. Indiferenta este esenta
inumanitatii. ( George Bernard
Shaw)