Development of a high-resolution melting method for the screening of Wilson disease-related ATP7B gene mutations

To investigate the clinical characteristics, auxiliary examination and treatment of Wilson’s disease(WD). The clinical data of a child with WD were summarized and analyzed comprehensively in conjunction with the literature reference. WD is a hereditary disease with a large age span, diverse early symptoms, high misdiagnosis rate, abnormal liver function, decreased ceruloplasmin, increased urinary copper, K-F rings, ATP7B gene mutation, ATP7B gene mutations, and abnormalities in abdominal and cranial brain imaging, which can be clearly diagnosed and require lifelong treatment. WD can be diagnosed according to the clinical manifestations and auxiliary examination to reduce misdiagnosis. The timely diagnosis and treatment will improve the prognosis the quality of life.

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Spectrum of ATP7B Gene Mutations in Pakistani Wilson Disease Patients: A Novel Mutation Is Associated with Severe Hepatic and Neurological Complication

International Journal of Biology ◽

10.5539/ijb.v2n1p117 ◽

2010 ◽

Vol 2 (1) ◽

Cited By ~ 1

Author(s):

Abdul Khaliq Naveed ◽

Asifa Majeed ◽

Sumreena Mansoor

Keyword(s):

Wilson Disease ◽

Novel Mutation ◽

Neurological Complication ◽

Gene Mutations ◽

Atp7b Gene

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Common Genetic Variants of MUTYH are not Associated with Cutaneous Malignant Melanoma: Application of Molecular Screening by Means of High-Resolution Melting Technique in a Pilot Case-Control Study

The International Journal of Biological Markers ◽

10.5301/jbm.2011.6285 ◽

2011 ◽

Vol 26 (1) ◽

pp. 37-42 ◽

Cited By ~ 4

Author(s):

Concetta Santonocito ◽

Andrea Paradisi ◽

Rodolfo Capizzi ◽

Eleonora Torti ◽

Sara Lanza-Silveri ◽

...

Keyword(s):

High Resolution ◽

High Resolution Melting ◽

Direct Sequencing ◽

Strong Association ◽

Laboratory Data ◽

Gene Mutations ◽

Case Control ◽

Common Genetic Variants ◽

Mutyh Gene ◽

Embryonic Origin

MUTYH glycosylase recognizes the 8-oxoG:A mismatch and is able to excise the adenine base using proofreading mechanisms. Some papers have reported a strong association between cancer development or aggressiveness and MUTYH gene mutations. The aim of this study was to find a possible association between the most frequent MUTYH mutations and melanoma in the context of a case-control pilot study. One hundred ninety-five melanoma patients and 195 healthy controls were matched for sex and age. Clinical and laboratory data were collected in a specific database and all individuals were analyzed for MUTYH mutations by high-resolution melting and direct sequencing techniques. Men and women had significantly different distributions of tumor sites and phototypes. No significant associations were observed between the Y165C, G382D and V479F MUTYH mutations and risk of melanoma development or aggressiveness. Our preliminary findings therefore do not confirm a role for MUTYH gene mutations in the melanoma risk. Further studies are necessary for the assessment of MUTYH not only in melanoma but also other cancer types with the same embryonic origin, in the context of larger arrays studies of genes involved in DNA stability or integrity.

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