遗传性球形红细胞增多症（SPH）与包括HLA和GM在内的24种遗传标记系统之间不存在紧密连锁关系。

Absence of close linkage between Hereditary spherocytosis (SPH) and 24 genetic marker systems including HLA and GM.

作者信息

de Jongh B M, Blacklock H A, Reekers P, Volkers W S, Meera Khan P, Bernini L F, Nijenhuis L E, van Loghem E, Schreuder G M, van Rood J J

出版信息

Ann Hum Genet. 1983 Jan;47(1):55-65. doi: 10.1111/j.1469-1809.1983.tb00970.x.

DOI:10.1111/j.1469-1809.1983.tb00970.x

PMID:6573155

Abstract

A total of 250 individuals belonging to 19 different families, identified through established propositi were simultaneously screened for hereditary spherocytosis (SPH), using stringent criteria, and 27 well-known polymorphic genetic marker systems. The segregation analysis indicated that the pattern of inheritance of SPH in these families, being autosomal and dominant, had a 100% penetrance. A statistical analysis, using the LIPED computer program of Ott (1974), revealed the absence of close linkage between SPH and ABO, ACP1, ADA, AK1, C3, DIA2, ESD, FY, GC, GLO1, GM, GPT1, HLA, HPA, JK, K, KM, MNS, P, PGD, PGM1, PGP, PI, and RH. Since an earlier study by other investigators had convincingly suggested a linkage between SPH and GM, we subjected the data to further analysis and found no significant heterogeneity in our recombination values of linkage between SPH and GM, or any of the other informative loci.

摘要

通过已确定的先证者识别出19个不同家族的250名个体，使用严格标准和27个知名多态性遗传标记系统同时筛查遗传性球形红细胞增多症（SPH）。分离分析表明，这些家族中SPH的遗传模式为常染色体显性遗传，外显率为100%。使用Ott（1974年）的LIPED计算机程序进行的统计分析显示，SPH与ABO、ACP1、ADA、AK1、C3、DIA2、ESD、FY、GC、GLO1、GM、GPT1、HLA、HPA、JK、K、KM、MNS、P、PGD、PGM1、PGP、PI和RH之间不存在紧密连锁。由于其他研究人员早期的一项研究令人信服地表明SPH与GM之间存在连锁关系，我们对数据进行了进一步分析，发现SPH与GM或任何其他信息位点之间的连锁重组值没有显著异质性。