两个短串联重复序列（STR）系统中新突变的结构

Structure of new mutations in 2 STR systems.

作者信息

Brinkmann B, Möller A, Wiegand P

机构信息

Institute of Legal Medicine, Westfälische Wilhelms-Universität, Münster, Germany.

出版信息

Int J Legal Med. 1995;107(4):201-3. doi: 10.1007/BF01428406.

DOI:10.1007/BF01428406

PMID:7599097

Abstract

Isolated father/child mismatches in cases with a high probability of paternity (W > 99.9%) have been investigated using short tandem repeat (STR) systems. According to the high probability of paternity new mutations could be assumed in these cases. A new mutation could be observed in 3 cases using the STR system HumACTBP2. Two of these cases showed a deletion and 1 case an insertion of 1 repeat (AAAG-motif) which could be verified by sequencing. In another paternity case a new mutation--1-repeat insertion (TCTA-motif)--in the HumVWA system was detected and verified by sequencing. These findings led to a new mutation rate of 0.7% (n = 453 meioses) for HumACTBP2 and 0.2% for HumVWA (n = 484 meioses).

摘要

对于亲权概率很高（W>99.9%）的案例中出现的单亲/子女不匹配情况，已使用短串联重复序列（STR）系统进行了研究。根据高亲权概率，可假定这些案例中存在新突变。使用STR系统HumACTBP2在3个案例中观察到了新突变。其中2个案例显示有1个重复序列（AAAG基序）缺失，1个案例显示有1个重复序列插入，这可通过测序验证。在另一个亲权案例中，在HumVWA系统中检测到1个新突变——1个重复序列插入（TCTA基序），并通过测序进行了验证。这些发现得出，HumACTBP2的新突变率为0.7%（n = 453个减数分裂），HumVWA的新突变率为0.2%（n = 484个减数分裂）。