Genetic Implications of Oculocutaneous Disorders
نویسندگان
چکیده
منابع مشابه
Rosacea and atopic dermatitis. Two common oculocutaneous disorders.
OBJECTIVE To increase awareness of the oculocutaneous manifestations of two common skin diseases. QUALITY OF EVIDENCE We reviewed clinically relevant articles from the dermatologic and ophthalmologic literature. The PubMed database was searched from January 1965 to January 2001 to locate retrospective and prospective cohort and descriptive studies using the MeSH terms acne rosacea; eczema; an...
متن کاملGenetic analyses of Chinese patients with digenic oculocutaneous albinism.
BACKGROUND Oculocutaneous albinism (OCA) is a heterogeneous and autosomal recessive disorder in all populations worldwide. The mutational spectra of OCA are population-specific. Some OCA patients carry mutations from different OCA genes. In this study, we investigated the frequency of digenic mutations in Chinese OCA patients. METHODS Genomic DNAs were extracted from the blood samples of 184 ...
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Yeast ,8-fructofuranosidase (invertase) or 1311-labelled albumin were entrapped into liposomes composed of phosphatidylcholine, cholesterol and phosphatidic acid. Of the fl-fructofuranosidase activity in the liposomal preparations 96-100% was latent. The following observations were made in experiments with rats injected with proteincontaining liposomes. 1. After injection of fl-fructofuranosida...
متن کاملEthical and social implications of genetic testing for communication disorders.
UNLABELLED Advances in genetics and genomics have quickly led to clinical applications to human health which have far-reaching consequences at the individual and societal levels. These new technologies have allowed a better understanding of the genetic factors involved in a wide range of disorders. During the past decade, incredible progress has been made in the identification of genes involved...
متن کاملOculocutaneous albinism
Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a gene for OCA. The clinical spectrum of OCA ranges, with OCA1A b...
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ژورنال
عنوان ژورنال: Proceedings of the Royal Society of Medicine
سال: 1969
ISSN: 0035-9157
DOI: 10.1177/003591576906200105