Expandable DNA Repeat and Human Hereditary Disorders

DNA structures, repeat expansions and human hereditary disorders.

Expansions of simple DNA repeats are responsible for more than two dozen hereditary disorders in humans, including fragile X syndrome, myotonic dystrophy, Huntington's disease, various spinocerebellar ataxias, Friedreich's ataxia and others. During the past decade, it became clear that unusual structural features of expandable repeats greatly contribute to their instability and could lead to th...

Genetics of human isolated hereditary nail disorders.

Human hereditary nail disorders constitute a rare and heterogeneous group of ectodermal dysplasias. They occur as isolated and/or syndromic ectodermal conditions where other ectodermal appendages are also involved, and can occur associated with skeletal dysplasia. 'Nail disorder, nonsyndromic congenital' (OMIM; Online Mendelian Inheritance in Man) is subclassified into 10 different types. The u...

Hereditary Disorders with Defective Repair of UV-Induced DNA Damage

Nucleotide excision repair (NER) is an essential system for correcting ultraviolet (UV)-induced DNA damage. Lesions remaining in DNA due to reduced capacity of NER may result in cellular death, premature aging, mutagenesis and carcinogenesis of the skin. So, NER is an important protection against these changes. There are three representative genodermatoses resulting from genetic defects in NER:...

Hereditary hemolytic disorders and enzymatic deficiencies of human erythrocytes.

5. Hereditary Kidney Disorders

Hereditary kidney disorders represent significant risk for the development of end stage renal desease (ESRD). Most of them are recognized in childhood, or prenataly particularly those phenotypicaly expressed as anomalies on ultrasound examination (US) during pregnancy. They represent almost 50% of all fetal malformations detected by US (1). Furthermore many of urinary tract malformations are as...

DNA repair, DNA replication and human disorders: a personal journey.

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