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Using DNA polymorphisms adjacent to single-copy genomic fragments derived from human chromosome 21, we initiated the construction of a linkage map of human chromosome 21. The probes were genomic EcoRI fragments pW228C, pW236B, pW231C and a portion of the superoxide dismutase gene (SOD-1). DNA polymorphisms adjacent to each of the probes were used as markers in informative families to perform classical linkage analysis. No crossing-over was observed between the polymorphic sites adjacent to genomic fragments pW228C and pW236B in 31 chances for recombination. Therefore, these fragments are closely linked to one another (theta = 0.00, lod score = 6.91, 95% confidence limits = 0-10 cM) and can be treated as one 'locus' with four high-frequency markers. There is a high degree of non-random association of markers adjacent to each of these two probes which suggests that they are physically very close to one another in the genome. The pW228C - pW236B 'locus' was also linked to the SOD-1 gene (theta = 0.07, lod score = 4.33, 95% confidence limits = 1-20 cM). On the other hand, no evidence for linkage was found between the pW228C-pW236B 'locus' and the genomic fragment pW231C (theta = 0.5, lod score = 0.00). Based on the fact that pW231C maps to 21q22.3 and SOD-1 to 21q22.1, we suggest that the pW228C-pW236B 'locus' lies in the proximal long arm of chromosome 21. These data provide the outline of a linkage map for the long arm of chromosome 21, and indicate that the pW228C-pW236B 'locus' is a useful marker system to differentiate various chromosome 21s in a population.
S D Kittur, and
S E Antonarakis, and
R E Tanzi, and
D A Meyers, and
A Chakravarti, and
Y Groner, and
J A Phillips, and
P C Watkins, and
J F Gusella, and
H H Kazazian
August 1988,
Genomics,
S D Kittur, and
S E Antonarakis, and
R E Tanzi, and
D A Meyers, and
A Chakravarti, and
Y Groner, and
J A Phillips, and
P C Watkins, and
J F Gusella, and
H H Kazazian
May 1989,
Genomics,
S D Kittur, and
S E Antonarakis, and
R E Tanzi, and
D A Meyers, and
A Chakravarti, and
Y Groner, and
J A Phillips, and
P C Watkins, and
J F Gusella, and
H H Kazazian
March 1991,
Genomics,
S D Kittur, and
S E Antonarakis, and
R E Tanzi, and
D A Meyers, and
A Chakravarti, and
Y Groner, and
J A Phillips, and
P C Watkins, and
J F Gusella, and
H H Kazazian
February 1993,
Genomics,
S D Kittur, and
S E Antonarakis, and
R E Tanzi, and
D A Meyers, and
A Chakravarti, and
Y Groner, and
J A Phillips, and
P C Watkins, and
J F Gusella, and
H H Kazazian
January 1985,
Annals of the New York Academy of Sciences,
S D Kittur, and
S E Antonarakis, and
R E Tanzi, and
D A Meyers, and
A Chakravarti, and
Y Groner, and
J A Phillips, and
P C Watkins, and
J F Gusella, and
H H Kazazian
February 1993,
Genomics,
S D Kittur, and
S E Antonarakis, and
R E Tanzi, and
D A Meyers, and
A Chakravarti, and
Y Groner, and
J A Phillips, and
P C Watkins, and
J F Gusella, and
H H Kazazian
February 1990,
Human genetics,
S D Kittur, and
S E Antonarakis, and
R E Tanzi, and
D A Meyers, and
A Chakravarti, and
Y Groner, and
J A Phillips, and
P C Watkins, and
J F Gusella, and
H H Kazazian
August 1990,
Proceedings of the National Academy of Sciences of the United States of America,
S D Kittur, and
S E Antonarakis, and
R E Tanzi, and
D A Meyers, and
A Chakravarti, and
Y Groner, and
J A Phillips, and
P C Watkins, and
J F Gusella, and
H H Kazazian
April 1991,
Genomics,
S D Kittur, and
S E Antonarakis, and
R E Tanzi, and
D A Meyers, and
A Chakravarti, and
Y Groner, and
J A Phillips, and
P C Watkins, and
J F Gusella, and
H H Kazazian
June 1990,
The EMBO journal,
