2-LOCI FOR TUBEROUS-SCLEROSIS - ONE ON 9Q34 AND ONE ON 16P13
2-LOCI FOR TUBEROUS-SCLEROSIS - ONE ON 9Q34 AND ONE ON 16P13
复制标题
DOI：
10.1111/j.1469-1809.1994.tb01881.x
复制
发表时间：
1994-05-01
影响因子：
1.9
通讯作者：
OSBORNE, J
中科院分区：
文献类型：
--
作者：
POVEY, S;BURLEY, MW;OSBORNE, J
本文对32个可作为脑硬化症（TSC）分离依据的家系进行了第9、11、12和16号染色体上的遗传标记检测。在一个大的家庭有明确的证据表明，连锁的标记染色体16p13.3（与D16 S291的4.7在θ = 0的lodscore），但其他家庭太小，给个别令人信服的lodscore。所有家系的合并结果在θ值为0.2的情况下，在9号染色体上ABO/DBH（最大lod 2.63）和16号染色体上D16 S291（最大lod 3.98）均为阳性结果。进一步的分析显示了异质性的强有力证据，大约一半的家庭与ASS和D9 S298之间的9号染色体上的基因座TSC 1连锁，一半与靠近D16 S291的16号染色体上的基因座TSC 2连锁。有没有明确的支持第三个位点，虽然在许多家庭，这不能被排除在外。在三个家庭的分离模式TSC仍然无法解释。在其中两个家庭显然分离TSC 1，但在每种情况下，一个单一的受影响的个人似乎排除了整个候选地区。临床特征的初步分析没有发现任何明确的差异，精神障碍的发病率在个人之间的不同连锁集团或与不同性别的父母的起源。甲周的频率。纤维瘤和面部血管纤维瘤在两个连锁组中也相似。本文还讨论了在存在基因座异质性的小家庭中检测连锁的困难。ZZ程序在这方面很有帮助。
32 families informative for the segregation of Tuberous sclerosis (TSC) have been examined for genetic markers on chromosomes 9, 11, 12 and 16. In one large family there was clear evidence of linkage to markers on chromosome 16p13.3 (lodscore with D16S291 of 4.7 at theta = 0) but other families were too small to give individually convincing lodscores. Combined results for all families gave positive results with ABO/DBH on chromosome 9 (max lod 2.63) and with D16S291 on chromosome 16 (max lod 3.98) at values of theta of 0.2 in each case. Further analysis showed strong evidence for heterogeneity with approximately half the families linked to a locus TSC1 on chromosome 9 between ASS and D9S298 and half to TSC2 on chromosome 16 close to D16S291. There was no definite support for a third locus although in many families this could not be excluded. In three families the segregation pattern of TSC remains unexplained. In two of these the family apparently segregates for TSC1 but in each case a single affected individual appeared to exclude the whole of the candidate region. Preliminary analysis of clinical features did not reveal any definite differences in incidence of mental handicap between individuals in different linkage groups or with different sex of the parent of origin. The frequencies of periungual. fibromas and facial angiofibromas were also similar in both linkage groups. The difficulties of detecting linkage in small families where there is locus heterogeneity are discussed. The program ZZ was found to be helpful in this respect.