STABLE LENGTH POLYMORPHISM OF UP TO 260 KB AT THE TIP OF THE SHORT ARM OF HUMAN CHROMOSOME-16

被引：153

作者：

WILKIE, AOM

HIGGS, DR

RACK, KA

BUCKLE, VJ

SPURR, NK

FISCHELGHODSIAN, N

CECCHERINI, I

BROWN, WRA

HARRIS, PC

机构：

[1] IMPERIAL CANC RES FUND,CLARE HALL LABS,POTTERS BAR EN6 3LD,HERTS,ENGLAND

[2] CEDARS SINAI MED CTR,LOS ANGELES,CA 90048

[3] INST GIANNINA GASLINI,GENET MOLEC LAB,I-16148 GENOA,ITALY

[4] UNIV OXFORD,DEPT BIOCHEM,OXFORD OX1 3QU,ENGLAND

来源：

CELL | 1991年 / 64卷 / 03期

基金：

英国惠康基金;

关键词：

D O I：

10.1016/0092-8674(91)90243-R

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

We have completed a long-range restriction map of the terminal region of the short arm of human chromosome 16 (16p13.3) by physically linking a distal genetic locus (alpha-globin) with two recently isolated probes to telomere-associated repeats (TelBam3.4 and TelBam-11). Comparison of 47 chromosomes has revealed major polymorphic length variation in this region: we have identified three alleles in which the alpha-globin genes lie 170 kb, 350 kb, or 430 kb from the telomere. The two most common alleles contain different terminal segments, starting 145 kb distal to the alpha-globin genes. Beyond this boundary these alleles are nonhomologous, yet each contains sequences related to other (different) chromosome termini. This chromosome size polymorphism has probably arisen by occasional exchanges between the subtelomeric regions of nonhomologous chromosomes; analogous length variation is likely to be present at other human telomeres.

引用

页码：595 / 606

页数：12

共 64 条

[1] ANALYSIS OF WILD-TYPE AND RAD50 MUTANTS OF YEAST SUGGESTS AN INTIMATE-RELATIONSHIP BETWEEN MEIOTIC CHROMOSOME SYNAPSIS AND RECOMBINATION [J].