CrossRef 1990 80 sitasi

Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster

CS Hatton AO Wilkie HC Drysdale WG Wood MA Vickers +5 lainnya

Abstrak

Abstract We describe a family in which alpha-thalassemia occurs in association with a deletion of 62 kilobases from a region upstream of the alpha globin genes. DNA sequence analysis has shown that the transcription units of both alpha genes downstream of this deletion are normal. Nevertheless, they fail to direct alpha globin synthesis in an interspecific hybrid containing the abnormal (alpha alpha)RA chromosome. It seems probable that previously unidentified positive regulatory sequences analogous to those detected in a corresponding position of the human beta globin cluster are removed by this deletion.

Penulis (10)

C

CS Hatton

A

AO Wilkie

H

HC Drysdale

W

WG Wood

M

MA Vickers

J

J Sharpe

H

H Ayyub

I

IM Pretorius

V

VJ Buckle

D

DR Higgs

Format Sitasi

Hatton, C., Wilkie, A., Drysdale, H., Wood, W., Vickers, M., Sharpe, J. et al. (1990). Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster. https://doi.org/10.1182/blood.v76.1.221.221

Akses Cepat

Lihat di Sumber doi.org/10.1182/blood.v76.1.221.221
Informasi Jurnal
Tahun Terbit
1990
Bahasa
en
Total Sitasi
80×
Sumber Database
CrossRef
DOI
10.1182/blood.v76.1.221.221
Akses
Terbatas