用于产前脆性X诊断培养的标本中常染色体脆性位点的分布。

Distribution of autosomal fragile sites in specimens cultured for prenatal fragile X diagnosis.

作者信息

Krawczun M S, Jenkins E C, Duncan C J, Stark-Houck S L, Kunaporn S, Schwatz-Richstein C, Gu H, Brown W T

机构信息

Department of Cytogenetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314.

出版信息

Am J Med Genet. 1991 Feb-Mar;38(2-3):456-63. doi: 10.1002/ajmg.1320380264.

DOI:10.1002/ajmg.1320380264

PMID:2018087

Abstract

We reviewed the distribution of autosomal fragile sites (FS) and spontaneous chromosome breaks or gaps (CB) at chromosome locations other than those recognized as FS from 100 amniotic fluid samples (AF), 19 chorionic villus samples (CVS), and 5 percutaneous umbilical blood samples (PUBS) referred for fragile X [fra(X)] analysis. We present data on the degree of expression of autosomal fragility in AF, CVS, and PUBS samples, and the relationship between degree of expression and induction system. The most common observed FS were: 3p14, 9p32, and 6q26 in AF; 9q32, 3q27, and 8q22 in CVS; and 3p14, Xq22, and 16q23 in PUBS cases. Distribution of FS and CB, when compared by induction system, was not found to be identical. Our data also indicate that the presence of any particular FS cannot be used as an indicator for the effectiveness of the fra(X) induction system in prenatal samples.

摘要

我们回顾了100份羊水样本（AF）、19份绒毛膜绒毛样本（CVS）和5份经皮脐血样本（PUBS）中常染色体脆性位点（FS）的分布情况，以及除被认定为FS的染色体位置外其他位置的自发染色体断裂或裂隙（CB）情况，这些样本均因脆性X[fra(X)]分析而送检。我们展示了羊水样本、绒毛膜绒毛样本和经皮脐血样本中常染色体脆性的表达程度数据，以及表达程度与诱导系统之间的关系。观察到的最常见的脆性位点分别为：羊水样本中的3p14、9p32和6q26；绒毛膜绒毛样本中的9q32、3q27和8q22；经皮脐血样本病例中的3p14、Xq22和16q23。通过诱导系统比较时，脆性位点和染色体断裂或裂隙的分布情况并不相同。我们的数据还表明，任何特定脆性位点的存在都不能用作产前样本中fra(X)诱导系统有效性的指标。