LINKAGE ANALYSIS IN X-LINKED OCULAR ALBINISM
نویسندگان
چکیده
منابع مشابه
X linked ocular albinism in Japanese patients.
Thirteen affected Japanese male patients and 13 female carriers with X linked ocular albinism from seven families were examined to assess their clinical findings and to compare them with those of white and black patients. Affected Japanese patients had poor visual acuity, horizontal nystagmus, macular hypoplasia, and loss of stereopsis. Some affected patients had non-albinotic fundus with moder...
متن کاملGenetic mapping of X linked ocular albinism: linkage analysis in British families.
Genetic linkage studies were performed in 16 British families affected by X linked ocular albinism (XLOA) using RFLPs from the Xp22.3 region. Linkage was confirmed between the XLOA locus (OA1) and the loci DXS143 (dic56; Zmax = 15.90 at theta = 0.0, confidence interval (CI) 0-0.035), DXS85 (782; Zmax = 15.67 at theta = 0.04, CI = 0.007-0.11), and DXS237 (GMGX9; Zmax = 12.65 at theta = 0.08, CI ...
متن کاملClinical features of affected males with X linked ocular albinism.
Seventy four males affected by X linked ocular albinism (XLOA) from 19 pedigrees were examined to assess phenotypic variation and visual prognosis. Nystagmus was present in all cases except one. Best visual acuity ranged from 6/9 to 6/60; 79.7% could see 6/36 or better; most could read N5. Marked iris translucency and foveal hypoplasia were present in all cases. Posterior embryotoxon was presen...
متن کاملCarrier detection in X linked ocular albinism using linked DNA polymorphisms.
Sixty two females at 50% carrier risk were assessed from 19 families affected by X linked ocular albinism (OA1). Twenty nine (47%) had definite fundus changes of the carrier state with a mud splattered fundus appearance and 23 (37%) had a normal ophthalmic examination. Ten (16%) had mild peripheral retinal pigmentary changes so that it was difficult to exclude the carrier state; six of these fe...
متن کاملX mapping in man: evidence against direct measurable linkage between ocular albinism and deutan colour blindness.
A Newfoundland kindred in which ocular albinism and deutan colour blindness are segregating provides strong evidence against the loci for these two X-borne characters being within direct measurable distance of each other.
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1987
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198704010-00765