非典型卵黄样黄斑营养不良（VMD - 1）与可溶性谷丙转氨酶（GPT1）基因座的连锁关系。

Linkage of atypical vitelliform macular dystrophy (VMD-1) to the soluble glutamate pyruvate transaminase (GPT1) locus.

作者信息

Ferrell R E, Hittner H M, Antoszyk J H

出版信息

Am J Hum Genet. 1983 Jan;35(1):78-84.

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1685473/

Abstract

One hundred twenty-eight blood samples were drawn from members of a single family with atypical vitelliform macular dystrophy (VMD-1) characterized by variable expressivity in affected members of at least 5 generations. Because of the late onset of detectable retinal lesions in most family members, phenotype data from only 93 individuals who were at least 14 years of age were analyzed for linkage. Phenotype data from the remaining 35 members of the family who were under age 14 were excluded from the analysis. Maximum-likelihood analysis for linkage between VMD-1 and 13 biochemical and serological markers in the family demonstrated linkage between VMD-1 and the soluble glutamate pyruvate transaminase (GPT1) locus, which has been tentatively assigned to the short arm of chromosome 16. A maximum lod score of Z = 4.34 (odds favoring linkage of approximately 22,000 to 1) was obtained at a recombination fraction of theta = .05.

摘要

从一个患有非典型卵黄样黄斑营养不良（VMD - 1）的单一家族成员中采集了128份血样。该家族至少5代受影响成员表现出可变的表达性。由于大多数家族成员可检测到的视网膜病变发病较晚，因此仅对93名年龄至少为14岁的个体的表型数据进行连锁分析。家族中其余35名年龄在14岁以下的成员的表型数据被排除在分析之外。对该家族中VMD - 1与13种生化和血清学标志物之间的连锁进行的最大似然分析表明，VMD - 1与可溶性谷氨酸丙酮酸转氨酶（GPT1）基因座之间存在连锁，该基因座已初步定位于16号染色体短臂。在重组率θ = 0.05时，获得了最大对数优势分数Z = 4.34（支持连锁的优势比约为22000比1）。