Zhang K, Bither P P, Park R, Donoso L A, Seidman J G, Seidman C E
Department of Genetics, Brigham and Women's Hospital, Boston, Mass.
Arch Ophthalmol. 1994 Jun;112(6):759-64. doi: 10.1001/archopht.1994.01090180057035.
To identify the chromosomal location of a mutated gene that causes an autosomal dominant Stargardt's macular dystrophy.
Ocular examinations were performed on 67 members of a large kindred to identify those with macular dystrophy. DNA analyses defined the genotype of all family members at 49 polymorphic loci. Linkage between the gene defect responsible for this macular dystrophy and each polymorphic locus was assessed by lodscore calculations.
Diminished visual acuity and funduscopic abnormalities were found in 29 family members, which was diagnostic of macular dystrophy. Genetic analyses demonstrated that polymorphic loci from chromosome 13 band q34 were linked to the gene defect in this family. Haplotype analyses localized the disease locus to an 8-centimorgan interval between loci D13S159 and D13S158/D13S174.
A disease locus responsible for an autosomal dominant Stargardt's macular dystrophy is located on chromosome 13 band q34. Identification of the mutated gene at this locus will lead to a better understanding of macular degeneration.
确定导致常染色体显性遗传性Stargardt黄斑营养不良的突变基因的染色体定位。
对一个大家系的67名成员进行眼科检查，以确定患有黄斑营养不良的个体。DNA分析确定了所有家庭成员在49个多态性位点的基因型。通过对数计分计算评估导致这种黄斑营养不良的基因缺陷与每个多态性位点之间的连锁关系。
在29名家庭成员中发现视力下降和眼底异常，这可诊断为黄斑营养不良。遗传分析表明，来自13号染色体q34带的多态性位点与该家系中的基因缺陷连锁。单倍型分析将疾病位点定位在D13S159和D13S158/D13S174位点之间8厘摩的区间内。
导致常染色体显性遗传性Stargardt黄斑营养不良的疾病位点位于13号染色体q34带。确定该位点的突变基因将有助于更好地理解黄斑变性。
