[Mutation analysis of keratin 5 and keratin 14 genes in a family with epidermolysis bullosa simplex with mottled pigmentation].

[epidermolysis bullosa simplex]

To identify keratin 5 (K 5 ) and keratin 14 (K 14 ) gene mutations in a family affected with epidermolysis bullosa simplex with mottled pigmentation .G enomic DNA was extracted from peripheral blood samples obtained from eleven patients from the family and controls . All the exons of K 5 and K 14 genes were amplified using polymerase chain reaction (PCR ) and directly sequenced .By DNA sequence analysis , a missense mutation in K 5 gene (c .237 C >T ) was detected . The same mutation was not found in non-affected members from the family and normal controls .Mutation in K 5 gene (c .237 C >T ) may be responsible for the development of disease in this family .

Diseases
Validation

Diseases presenting "blood samples" symptom

22q11.2 deletion syndrome

acute rheumatic fever

adrenomyeloneuropathy

alpha-thalassemia

aniridia

aromatase deficiency

benign recurrent intrahepatic cholestasis

canavan disease

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital toxoplasmosis

cushing syndrome

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

esophageal adenocarcinoma

fabry disease

familial mediterranean fever

heparin-induced thrombocytopenia

hirschsprung disease

hodgkin lymphoma, classical

homocystinuria without methylmalonic aciduria

kallmann syndrome

oculocutaneous albinism

oligodontia

oral submucous fibrosis

papillon-lefèvre syndrome

phenylketonuria

primary effusion lymphoma

scrub typhus

sneddon syndrome

systemic capillary leak syndrome

triple a syndrome

typhoid

von hippel-lindau disease

waldenström macroglobulinemia

well-differentiated liposarcoma

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

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