aula 5

Prévia do material em texto

1. 
ACVRL1
AGAP2
ALDH2
2.
52301.202 12q13.13
58118.076 12q13.2
112204.691 12q24.12
3.
ACVRL1 Solid tumours
HMGIC-ALDH2 Entity Uterine leiomyoma (uterine fibroids) Benign mesenchymal tumors
AGAP2 Glioblastoma
4.
ACVRL1
Hereditary haemorrhagic telangiectasia: a clinical analysis.
Porteous ME, Burn J, Proctor SJ.
J Med Genet. 1992 Aug;29(8):527-30.
PMID 1518020
ALDH2
Molecular abnormality and cDNA cloning of human aldehyde dehydrogenases.
Yoshida A, Ikawa M, Hsu LC, Tani K
Alcohol (Fayetteville, N.Y.). 1985 ; 2 (1) : 103-106.
PMID 4015823
AGAP2
Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 
new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1.
Nagase T, Seki N, Ishikawa K, Tanaka A, Nomura N
DNA research : an international journal for rapid publication of reports on genes and genomes. 
1996 ; 3 (1) : 17-24.
PMID 8724849
5.
ABCB1 87133.179 7q21.12
ABCB5 20655.245 7p14
ACHE 100487.615 7q22
6.
Birt-Hogg-Dubé syndrome (BHDS)
FLCN
Location 17p11.2
Familial tylosis
RHBDF2
Location 17q25
1.1
45,XX,add(1)(p13) or del(1)(p22),-22
71-83,XXX,add(1)(p32),del(1)(p22),+2,+2,del(3)(p21p23),+5,+11,+12,+13,+18, +19,+20
 46,XY,t(1;19)(p22;p13)
1.2
deleção
translocação
adição
1.3
Sex Female
Age
Race
CountryUnited Kingdom
Sex Female
Age
Race
CountryUnited Kingdom
Sex Female
Age 78
Race
CountryItaly
1.4
Myelodysplastic syndrome, NOS
Acute myelomonocytic leukemia (FAB type M4)
Chronic myeloid leukemia, aberrant translocation