两个瑞典亨廷顿舞蹈病家族中G8（D4S10）的连锁关系

Linkage of G8 (D4S10) in two Swedish families with Huntington's disease.

作者信息

Holmgren G, Almqvist E W, Anvret M, Conneally M, Hobbs W, Mattsson B, Wahlström J, Winblad B, Gusella J F

机构信息

Department of: Clinical Genetics, University Hospital, Umeå, Sweden.

出版信息

Clin Genet. 1987 Nov;32(5):289-94. doi: 10.1111/j.1399-0004.1987.tb03292.x.

DOI:10.1111/j.1399-0004.1987.tb03292.x

PMID:2961484

Abstract

Two Swedish families with Huntington's disease (HD) have been investigated for linkage with G8 (D4S10). In one family from northern Sweden (Family 1) 48 family members were examined, and in another family from the southwestern part of Sweden (Family 2) 14 family members were examined. The lod scores were 1.531 for Family 1 and 2.057 for Family 2, and the combined lod score was 3.59. The HD gene was segregating with the haplotype C in Family 1 and with haplotype A in Family 2. The predictive value of the test was obvious. Before the testing with the G8 probe, 84.2% of the family members in Family 1 had a theoretical risk of 25% or 50% of having the HD gene. After the testing with the G8 probe, only 23.7% of the family members remained at the same risk, and it could also be certified that 63.2% had no or little risk of having the HD gene. Only one asymptomatic person was predicted to have HD.

摘要

对两个患有亨廷顿舞蹈症（HD）的瑞典家庭进行了与G8（D4S10）的连锁分析。在瑞典北部的一个家庭（家庭1）中，对48名家庭成员进行了检查，在瑞典西南部的另一个家庭（家庭2）中，对14名家庭成员进行了检查。家庭1的连锁值为1.531，家庭2的连锁值为2.057，合并连锁值为3.59。在家庭1中，HD基因与单倍型C共分离，在家庭2中与单倍型A共分离。该检测的预测价值很明显。在用G8探针检测之前，家庭1中84.2%的家庭成员携带HD基因的理论风险为25%或50%。在用G8探针检测之后，只有23.7%的家庭成员仍处于相同风险水平，并且还可以确定63.2%的家庭成员携带HD基因的风险很低或没有风险。仅预测有一名无症状个体患有HD。