Biomaterial Database

Dyskeratosis congenita: three additional families show linkage to a locus in Xq28. 1993

R Arngrimsson, and I Dokal, and L Luzzatto, and J M Connor

Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, UK.

Dyskeratosis congenita (DC) is a rare inherited disorder with most families being of the X linked recessive type. We describe three families which show linkage to the marker DXS52 on Xq28. The combined maximum lod score was 2.00 at zero recombination. This is further evidence that the X linked DC gene is located at Xq28 and brings the reported maximum lod score for DC and DXS52 to 5.33 at zero recombination fraction, with a supporting recombination fraction interval of 0.00-0.10.

UI	MeSH Term	Description	Entries
D007767	Lacrimal Duct Obstruction	Interference with the secretion of tears by the lacrimal glands. Obstruction of the LACRIMAL SAC or NASOLACRIMAL DUCT causing acute or chronic inflammation of the lacrimal sac (DACRYOCYSTITIS). It is caused also in infants by failure of the nasolacrimal duct to open into the inferior meatus and occurs about the third week of life. In adults occlusion may occur spontaneously or after injury or nasal disease. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p250)	Nasolacrimal Duct Obstruction,Tear Duct Obstruction,Duct Obstruction, Lacrimal,Duct Obstruction, Nasolacrimal,Duct Obstruction, Tear,Lacrimal Duct Obstructions,Nasolacrimal Duct Obstructions,Obstruction, Lacrimal Duct,Obstruction, Nasolacrimal Duct,Obstruction, Tear Duct,Tear Duct Obstructions
D007971	Leukoplakia	A white patch lesion found on a MUCOUS MEMBRANE that cannot be scraped off. Leukoplakia is generally considered a precancerous condition, however its appearance may also result from a variety of HEREDITARY DISEASES.	Leukokeratosis,Leukoplakic Lesions,Lesion, Leukoplakic,Lesions, Leukoplakic,Leukokeratoses,Leukoplakias,Leukoplakic Lesion
D008040	Genetic Linkage	The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.	Genetic Linkage Analysis,Linkage, Genetic,Analyses, Genetic Linkage,Analysis, Genetic Linkage,Genetic Linkage Analyses,Linkage Analyses, Genetic,Linkage Analysis, Genetic
D008126	Lod Score	The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."	Lod Scores,Score, Lod,Scores, Lod
D008297	Male		Males
D009264	Nails, Malformed	Deformities in nail structure or appearance, including hypertrophy, splitting, clubbing, furrowing, etc. Genetic diseases such as PACHYONYCHIA CONGENITA can result in malformed nails.	Onychauxis,Onychogryposis,Nail Abnormalities,Nails, Abnormal,Pachyonychia,Abnormal Nail,Abnormal Nails,Abnormalities, Nail,Abnormality, Nail,Malformed Nail,Malformed Nails,Nail Abnormality,Nail, Abnormal,Nail, Malformed
D010198	Pancytopenia	Deficiency of all three cell elements of the blood, erythrocytes, leukocytes and platelets.	Pancytopenias
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D011995	Recombination, Genetic	Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.	Genetic Recombination,Recombination,Genetic Recombinations,Recombinations,Recombinations, Genetic
D012150	Polymorphism, Restriction Fragment Length	Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.	RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms