Refinement of the localization of the X-linked ocular albinism gene. 1993

A A Bergen, and P Zijp, and E J Schuurman, and E M Bleeker-Wagemakers, and P Apkarian, and G J van Ommen
The Netherlands Ophthalmic Research Institute, Amsterdam.

Although physical and genetic mapping studies assigned the X-linked ocular albinism gene to Xp22.3, the exact gene order in this region is still unclear. We present additional genetic mapping data concerning X-linked ocular albinism that suggests the consensus order Xpter-STS-DXS237-KAL-(OA1, DXS143)-DXS85-DXS16-Xcen.

UI MeSH Term Description Entries
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
D008297 Male Males
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
D002874 Chromosome Mapping Any method used for determining the location of and relative distances between genes on a chromosome. Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014960 X Chromosome The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species. Chromosome, X,Chromosomes, X,X Chromosomes
D016117 Albinism, Ocular Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity. Ocular Albinism
D017436 Kallmann Syndrome A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait. Anosmic Hypogonadism,Anosmic Idiopathic Hypogonadotropic Hypogonadism,Autosomal Dominant Form of Kallmann Syndrome,Autosomal Recessive Form of Kallmann Syndrome,Dysplasia Olfactogenitalis of De Morsier,Hypogonadotropic Hypogonadism and Anosmia,Hypogonadotropic Hypogonadism, Anosmia, and Midline Cranial Anomalies (Cleft Lip, Cleft Palate and Imperfect Fusion),Hypogonadotropic Hypogonadism-Anosmia Syndrome,Kallmann Syndrome 1,Kallmann Syndrome 2,Kallmann Syndrome 3,Kallmann Syndrome, Type 1, X-linked,Kallmann Syndrome, Type 3, Recessive,Kallmann's Syndrome,Anosmic Hypogonadisms,Hypogonadism, Anosmic,Hypogonadisms, Anosmic,Kallmanns Syndrome,Syndrome, Kallmann,Syndrome, Kallmann's

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