Phenotypic variability in X-linked ocular albinism: Relationship to linkage genotypes
- Children`s Hospital of Philadelphia, PA (United States)
- Univ. of Pennsylvania School of Medicine, Philadelphia, PA (United States)
- Fox Chase Cancer Center, Philadelphia, PA (United States)
- Oregon Health Sciences Univ., Portland, OR (United States)
- Boston Children`s Hospital, MA (United States)
- Univ. of California, Davis, CA (United States)
- Children`s Hospital and Medical Center, Seattle, WA (United States)
- Princess Margaret Hospital, Perth (Australia)
- Newcastle Western Suburbs Hospital, Waratah (Australia)
One hundred nineteen individuals from 11 families with X-linked ocular albinism (OA1) were studied with respect to both their clinical phenotypes and their linkage genotypes. In a four-generation Australian family, two affected males and an obligatory carrier lacked cutaneous melanin macroglobules (MMGs); ocular features were identical to those of Nettleship-Falls OA1. Four other families had more unusual phenotypic features in addition to OA1. All OA1 families were genotyped at DXS16, DXS85, DXS143, STS, and DXS452 and for a CA-repeat polymorphism at the Kallmann syndrome locus (KAL). Separate two-point linkage analyses were performed for the following: group A, six families with biopsy-proved MMGs in at least one affected male; group B, four families whose biopsy status was not known; and group C, OA-9 only (16 samples), the family without MMGs. At the set of loci closest to OA1, there is no clear evidence in our data set for locus heterogeneity between groups A and C or among the four other families with complex phenotypes. Combined multipoint analysis (LINKMAP) in the 11 families and analysis of individual recombination events confirms that the major locus for OA1 resides within the DXS85-DXS143 interval. The authors suggest that more detailed clinical evaluations of OA1 individuals and families should be performed for future correlation with specific mutations in candidate OA1 genes. 29 refs., 5 figs., 4 tabs.
- OSTI ID:
- 50655
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue 3; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
Similar Records
Refinement of the localization of the X-linked ocular albinism gene
X-linked ocular albinism and sensorineural deafness: Linkage to Xp22. 3