Molekulární diagnostika vrozených nemocí
Lenka Fajkusová
Centrum molekulární biologie a genové terapie
Fakultní nemocnice Brno
Černopolní 9
625 00 Brno
lfajkusova@fnbrno.cz
Ústav experimentální biologie
Oddělení funkční genomiky a proteomiky
Kamenice 5
625 00 Brno
FN Brno_modra_obdelnik_maly Logo CMBGT_verze 5 final Masarykova univerzita Masarykova univerzita
Masarykova univerzita

• nervosvalových nemocí
• metabolických nemocí
• mentálních retardací
• kožních nemocí
Molekulární problematika dědičných
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Disease
Gene
Localization
Protein
Duchenne/Becker muscular dystrophy
DMD
Xp21
Dystrophin
Spinal muscular atrophy
SMN1
5q12
Survival motor neuron protein 1
Myotonic dystrophy, type 1
DMPK
19q13
Dystrophia myotonia protein kinase
Myotonic dystrophy, type 2
ZNF9
3q13
Zinc finger protein 9
Facioscapulohumeral muscular dystrophy
Deletion of D4Z4
4q35

Myotonia congenita, Thomsen/Becker
CLCN1
7q35
Chloride channel 1
Myotonia congenita
SCN4A
17q23
Sodium channel 4, alpha subunit
Limb girdle muscular dystrophy, type 2A
CAPN3
15q15
Calpain-3
Limb girdle muscular dystrophy, type 2D
SGCA
17q12
Sarcoglycan, alpha
Limb girdle muscular dystrophy, type 2I
FKRP
19q13
Fukutin-related protein
Nervosvalové nemoci
myodyssm medwinging DMD_boys_sm dmgirl

Metabolické nemoci
Smith-Lemli-Opitz%20syndrome A child with glycogen storage disease type Ia (sa... Kayser-Fleischer
Rings
Disease
Gene
Localization
Protein
Familial hypercholesterolemia
LDLR
19p13
Low density lipoprotein receptor
Familial hypercholesterolemia, type B
APOB
2p24
Apolipoprotein B100
Alpha-1-antitrypsin deficiency
PI
14q32
Alpha-1-antitrypsin
Phenylketonuria
PAH
12q24
Phenylalanine hydroxylase
Smith-Lemli-Opitz syndrome
DHCR7
11q12
Sterol delta-7-reductase
Wilson disease
ATP7B
13q14
ATPase, Cu(2+)-transporting beta polypeptide
Congenital adrenal hyperplasia
CYP21A2
6p21
21-hydroxylase
Galactosemia
GALT
9p13
Galactose-1-phosphate uridylyltransferase
Glycogen storage disease, type 1A
G6PC
17q21
Glucose-6-phosphatase
Glycogen storage disease, type 1B
G6PT
11q23
Glucose-6-phosphate transporter protein
Glycogen storage disease, type 2
GAA
17q25
Acid alpha-1,4-glucosidase
Glycogen storage disease, type 3
AGL
1p21
Glycogen debrancher enzyme

Kožní nemoci
eb%20epidermolysis%20bullosa%201 2 dn499497 Epidermolysis bullosa, dystrophic
Disease
Gene
Localization
Protein, function
Epidermolysis bullosa simplex
KRT5, KRT14
12q13, 17q12
Keratin 5, keratin 14
Epidermolysis bullosa dystrophica
COL7A1
3p21
Type VII collagen, alpha-1 chain
Incontinentia pigmenti
NEMO (IKBKG)
Xq28
Ichthyoses
FLG, STS, TGM1
1q21, 14q12, Xp22
Filaggrin, steroid sulfatase, transglutaminase,

Disease
Gene
Localization
Protein, function
Fragile X syndrome
FMR1
Xq27
Fragile X mental retardation protein
Mentální retardace
fragile-x-syndrome Photograph of children fragile43
Disease
Gene
Localization
Protein, function
GEFS+
SCN1A
2q24
Sodium chanel, neuronal type I, alpha subunit
pyridoxine-dependent epilepsy, pyridoxamine phosphate oxidase deficiency, hyperprolinémia
ALDH7A1, PNPO, ALDH4A1
5q31; 17q21; 1q36
Aldehyde dehydrogenase 7 family, memner A1; Pyridoxamine 5-prime-phosphate oxidase; Aldehyde
dehydrogenase, family 4, subfamily A
Epilepsie

Onemocnění ….. asociovaný gen ….. dědičnost (AR, AD, X-vázaná) ….. kódovaný protein ….. funkce
proteinu ….. vliv mutace/mutací na funkci proteinu ….. molekulární podstata onemocnění ….. klinické
projevy onemocnění ….. používané metody DNA diagnostiky