Small K W, Garcia C A, Gallardo G, Udar N, Yelchits S
The Macular Center at the Jules Stein Eye Institute, UCLA, Los Angeles, California 90095, USA.
Retina. 1998;18(5):448-52.
To map the gene responsible for causing a macular degeneration in a Texan family that appears clinically similar to the North Carolina macular dystrophy (MCDR1) phenotype.
A single family in Texas had all the typical clinical features of the North Carolina macular dystrophy phenotype. Of 23 family members examined, 10 were affected. Blood was collected from all 23 members and fundus photographs were obtained on those affected. A detailed family history consisting of nine generations was obtained. Genotyping and likelihood analysis was performed using the closest linked MCDR1 markers.
The genealogic data showed no relation with the original North Carolina macular dystrophy pedigree. The dinucleotide repeat marker D6S283 yielded the highest 2-point LOD score with a Zmax = 4.1 at theta = 0. The peak LOD score generated from multipoint analysis was 6.0.
The linkage results indicate that the macular degeneration in this Texan family is due to a mutation in the same genomic region as that causing North Carolina macular dystrophy. Furthermore, haplotype analysis suggests that the original North Carolina family and the Texan family have the same mutation and a common founder.
在一个临床症状与北卡罗来纳黄斑营养不良（MCDR1）表型相似的得克萨斯家族中定位导致黄斑变性的基因。
得克萨斯州的一个家族具有北卡罗来纳黄斑营养不良表型的所有典型临床特征。在接受检查的23名家族成员中，有10人患病。采集了所有23名成员的血液，并为患病成员拍摄了眼底照片。获得了一份包含九代人的详细家族史。使用与MCDR1紧密连锁的标记进行基因分型和似然性分析。
系谱数据显示与最初的北卡罗来纳黄斑营养不良家系没有关联。二核苷酸重复标记D6S283产生了最高的两点LOD分数，在θ = 0时Zmax = 4.1。多点分析产生的峰值LOD分数为6.0。
连锁分析结果表明，这个得克萨斯家族的黄斑变性是由与导致北卡罗来纳黄斑营养不良相同的基因组区域中的突变引起的。此外，单倍型分析表明，最初的北卡罗来纳家族和得克萨斯家族具有相同的突变和共同的祖先。
