NORTH CAROLINA MACULAR DYSTROPHY (MCDR1) IN TEXAS
NORTH CAROLINA MACULAR DYSTROPHY (MCDR1) IN TEXAS
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德克萨斯州北卡罗来纳州黄斑营养不良 (MCDR1)
DOI：
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发表时间：
1998
期刊：
影响因子：
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通讯作者：
S. Yelchits
中科院分区：
文献类型：
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作者：
K. Small;Charles A. Garcia;Guillermo Gallardo;N. Udar;S. Yelchits
目的：在德克萨斯州一个家族中定位导致黄斑变性的基因，该家族临床表现与北卡罗来纳州黄斑营养不良（MCDR 1）表型相似。方法：德克萨斯州的一个家族具有北卡罗来纳州黄斑营养不良表型的所有典型临床特征。在接受检查的23名家庭成员中，有10人受到影响。从所有23名成员中采集血液，并对受影响的人进行眼底照片。详细的家族史包括九代人。使用最紧密连锁的MCDR1标记进行基因分型和可能性分析。结果：家系资料显示与原来的北卡罗来纳州黄斑营养不良家系无关。二核苷酸重复标记D6S283产生最高的2点LOD评分，在θ = 0时Zmax = 4.1。多点分析生成的LOD评分峰值为6.0。结论：连锁结果表明，这个得克萨斯家族的黄斑变性是由于与引起北卡罗来纳州黄斑营养不良的基因组区域相同的突变所致。此外，单倍型分析表明，最初的北卡罗来纳州家族和德克萨斯州家族具有相同的突变和共同的创始人。
Purpose: 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. Methods: 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. Results: 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. Conclusions: 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.