Isolation and mapping of cosmid markers on human chromosome 22, including one within the submicroscopically deleted region of DiGeorge syndrome

Hiroki Kurahashi, Kenzo Akagi, Katsu Karakawa, Tsutomu Nakamura, Jan P. Dumanski, Tetsuya Sano, Shintaro Okada, Shin ichiro Takai, Isamu Nishisho

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Abstract

A genomic cosmid library was constructed from a Chinese hamster/human hybrid cell containing human intact chromosome 22 as its only human component. Of 1000 cosmids with inserts derived from human chromosome 22, 191 were tested for restriction fragment length polymorphisms (RFLPs). As a result, 64 clones detected RFLPs, including five variable number of tandem repeats systems. Of the remaining 127 cosmids, 111 detected a single copy sequence on human chromosome 22. Five somatic cell hybrids allowed us to assign all of the 64 polymorphic cosmids and 44 non-polymorphic cosmids to four different regions of human chromosome 22. In two patients with DiGeorge syndrome, one of the cosmids that had been sublocalized to 22pter-q11 detected hemizygosity. These 108 cosmid markers regionally assigned to human chromosome 22 should be useful for the construction of long-range physical maps and the identification of genetic alterations on the chromosome.

Original languageEnglish
Pages (from-to)248-254
Number of pages7
JournalHuman Genetics
Volume93
Issue number3
DOIs
Publication statusPublished - 01-03-1994
Externally publishedYes

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All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Kurahashi, H., Akagi, K., Karakawa, K., Nakamura, T., Dumanski, J. P., Sano, T., Okada, S., Takai, S. I., & Nishisho, I. (1994). Isolation and mapping of cosmid markers on human chromosome 22, including one within the submicroscopically deleted region of DiGeorge syndrome. Human Genetics, 93(3), 248-254. https://doi.org/10.1007/BF00212017