Human Karyotype-Nomenclature Human genome

Answer 1

To determine the commonly deleted region on chromosome

3 in carcinoma of the uterine cervix, these samples were also

examined for loss of heterozygosity at 5 other loci on chro

mosome 3: RAFl(3p24-25) (14); ERBAß(3p22-24.l ) (17);

DNF15S2 (3p21) (13); D3S3(3pl4) (13); and SST(3q28) (13).

Loss of heterozygosity at the RAF1 locus and the ERBAßlocus

was observed in one of 3 patients and 3 of 7 patients (Fig. 1, b

c), respectively, but no loss was observed at 2 other loci,

DNFI5S2 and SST, whereas duplication of one of two alÃeles

was observed in 2 of 6 patients at SST (Table 1). Analysis of

loss of heterozygosity at the ERBAßlocus was performed using

2 different DNA probes: a human ERBAßcomplementary DNA

clone, pheA4; and a genomic ERBAßDNA clone, pBH302 (15-

17). The pheA4 and pBH302 probes detect BamHl and Hindlll

RFLP, respectively, and loss of heterozygosity at this locus was

observed in none of 2 patients by using the pheA4 probe and

in 3 of 5 patients by the pBH302 probe (Table 1; Fig. lé).No

information was available on loss of heterozygosity at the D3S3

locus, because none of the 18 patients was heterozygous in

normal tissue at this locus. Therefore, the commonly deleted

chromosomal region in carcinoma of the uterine cervix is

probably a small part of the short arm of chromosome 3,

including the D3S2 locus. These results strongly suggest that

recessive genetic changes on chromosome 3p are involved in

the development of carcinoma of the uterine cervix.