Genetica moleculara
Ghidul specialistului / Genetica moleculara
1. Sindrom X fragil, FMR1 |
2. Sindrom Prader-Willi, SNRPN |
3. Sindrom Angelman, SNRPN |
4. PWS/AS tip mutatie (UPD, deletie) |
5. Secventierea UBE3A in sindromul Angelman, UBE3A |
6. Sindrom Rett, MECP2 |
7. Sindrom Coffin-Lowry, RSK2 |
8. Retard mental legat de cromozomul X; cuplare familiala |
9. Sindrom Sotos, NSD1 |
1. Coreea Huntington, HD15 |
2. Ataxie spinocerebeloasa tip 1, ATX1 |
3. Ataxie spinocerebeloasa tip 2, ATX2 |
4. Ataxie spinocerebeloasa tip 3, Machado-Joseph, ATX3 |
5. Ataxie spinocerebeloasa tip 6, CACNA1A |
6. Ataxie spinocerebeloasa tip 7, SCA7 |
7. Ataxie spinocerebeloasa tip 8, SCA8 |
8. Ataxia Friedereich, FRDA |
9. Neuropatie motorie si senzitiva ereditara, HMSN1A, CMT1A, Duplicatii, PMP22 |
10. HMSN mutatii punctiforme PMP 22 |
11. Sceloraza laterala amiotrofica familiala, SOD1 |
12. Displazia Dentato rubro palido luisiana, DRPLA |
13. APO E4/ risc Alzheimer , APOE |
14. Boala familiala Alzheimer, AD3/PSEN1 |
1. Distrofie musculara Duchenne/Becker, Screening pentru deletie, DMD/BMD |
2. DMD diagnostic de purtator/Analiza cuplului, DMD-cuplu |
3. DMD PCR quantitativ/duplicatie si diagnostic de purtator, DMD |
4. DMD SSCP- analiza (secventiere - daca este neccesar), DMD |
5. Atrofie spinala musculara tip I-III, SMN1 |
6. Atrofie spinobulbara musculara Kennedy, AR |
7. Distrofie miotonica, DMPK |
8. Mioadenilat dezaminaza, AMPD1 |
9. Sindrom Barth, TAZ |
1. Polipoza familiala adenomatoasa, Instabilitatea microsatelitilor, |
(BAT26, BAT40, APC, D17S250, D2S113), APC |
2. Melanom familal malign, p16/CDKN2A |
3. Neoplazia endocrina multipla, ( MEN2A si 2B), RET |
4. Sindrom Li-Fraumeni, p53 |
5. Mixom Cardiac, complex Carney tip 1, PRKAR1A |
6. BRC-ABK translocatie in CML |
7. BRCA 1 + BRCA 2 |
1. Factor de azoospermia, DAZ |
2. Disgenezie gonadala, regiunea determinanta a sexului, SRY |
3. Mutatii CFTR |
4. Aplazie congenitala bilaterala vas deferens, CBAVD, CFTR, IVS8-5T |
1. Factor de azoospermia, DAZ |
2. Disgenezie gonadala, regiunea determinanta a sexului, SRY |
3. Mutatii CFTR |
4. Aplazie congenitala bilaterala vas deferens, CBAVD, CFTR, IVS8-5T |
5. Deficienta Alfa 1-antitripsina, PI |
6. Fenilcetonuria, PAH |
7. Boala Wilson, ATP7B |
8. Fibroza chistica, mucoviscidoza, CFTR |
9. Fibroza chistica, DHPLG, CFTR |
10. Fibroza chistica, secventiere, CFTR |
11. Sindrom Adrenogenital, AGS, CYP21 |
12. Adrenoleucodistrofie /Adrenomielinoneuropatie, ALD/AMN |
13. Hemocromatoza, HFE |
14. Acetil-Coa Dehidrogenaza lant mediu, ACADM |
15. Sindrom de deficienta la Lactoza (LCT), LPH |
1. Tromboza, factor V Leiden, F5 |
2. Tromboza, factor V Cambridge, F5 |
3. Tromboza, prothrombine-gene, F2 |
3. Hiperhomocisteinernia, MTHFR |
4. Plasminogen activator inhibitor, PAI 1 and 2, PAI1, PAI2 |
5. Protein C secventa, PROC |
6. Protein S secventa, PROS1 |
7. Deficienta de antitrombina III, AT3 |
1. Sindrom Williams-Beuren / stenoza aortica supravalvulara, ELN |
2. Beta-thalassemia, anemia falciforma, HBB |
3. Pancreatitia cronica/ tripsinogen cationic, PRSS1 |
4. Febra mediteraneana familiala, MEFV |
5. Sindrom Holt-Oram, TBX5 |
6. Noonan’s syndrome, PTPN11 |
7. Acondroplazia / Hipocondroplazia, FGFR3 |
8. Maladia Meulengrachts, UGT1A1 |
9. UPD 2, 7, 11, 14, 15, 16 si 22 |
10. UPD 2, 6, 7, 8, 11, 13 si 15 |
11. Hipertermie maligna, receptor rianodina, RYR1 |
1. Hiperlipidemia, boala Alzheimer, APOE |
2. Hipercolesterolemia, APOB-100 |
3. Angiotensinconvertaza , ACE-ID |
4. Polimorfismul receptorului pentru Vitamin D, VDR |
5. Osteoporoza, COL1A1 polimorfism, COL1A1 |
6. Atac cerebral juvenil, PON1 |
7. Hipertensiune arteriala, AGT M235T polimorfism, AGT |
8. Rezistenta HIV , CCR5 |
9. HLA A, B, DR, DQ |
10. Boala celiaca asociata cu alela HLA |
11. Narcolepsia asociata cu alela HLA |
1. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes |
( MELAS), MTT |
2. Mitochondrial (mt-) tRNA ( MTT ) |
3. Myoclonic epilepsy with ragged-red fibers (MERRF), MTTL1, MTTK, MTTS1 |
1. Toxicitate Fluouracil (exon 14-skipping mutation), DPYD |
2. Glutathione S-Transferaza TI/M1, GSTM |