Department of Anatomy, Jagiellonian University Medical College, Krakow, Poland.
Department of Biochemistry, Jagiellonian University Medical College, Krakow, Poland.
Folia Morphol (Warsz). 2023;82(2):269-273. doi: 10.5603/FM.a2022.0019. Epub 2022 Mar 3.
There is a specific polymorphism of the ACAN gene called the variable number of tandem repeats (VNTR), which is particularly interesting in the light of the development of intervertebral disc pathology and associated low back pain.
The nucleus pulposus specimens were harvested from the L5/S1 intervertebral discs. The aggrecan content was determined using enzyme- linked immunosorbent assay (ELISA). Moreover, the VNTR polymorphism in the ACAN gene was evaluated.
The genotyping of VNTR polymorphism in ACAN gene was successful in 94 tissue samples (48 homozygotes and 46 heterozygotes). The alleles were divided into four groups, in accordance with the number of tandem repeats in the ACAN gene. No difference between groups in the mean aggrecan mass nor in the mean degree of tissue moisture was observed.
No relationship between the ACAN gene VNTR polymorphism and the aggrecan content was observed in studied Caucasian cadavers. Such a relationship may be a more complex phenomenon and exists in other populations.
ACAN 基因存在一种特殊的多态性，称为串联重复数可变（VNTR），这在椎间盘病理学和相关腰痛的发展方面特别有趣。
从 L5/S1 椎间盘采集髓核组织标本。采用酶联免疫吸附试验（ELISA）测定聚集蛋白聚糖含量。此外，还评估了 ACAN 基因中的 VNTR 多态性。
在 94 个组织样本中成功进行了 ACAN 基因 VNTR 多态性的基因分型（48 个纯合子和 46 个杂合子）。等位基因根据 ACAN 基因中的串联重复数分为四组。各组之间的聚集蛋白聚糖质量平均值和组织水分程度平均值均无差异。
在研究的白种人尸体中，ACAN 基因 VNTR 多态性与聚集蛋白聚糖含量之间未观察到相关性。这种关系可能是一种更为复杂的现象，存在于其他人群中。
