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

Research output: Contribution to journalArticle

24 Citations (Scopus)

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

Fingerprint

DiGeorge Syndrome
Chromosomes, Human, Pair 22
Cosmids
Human Chromosomes
Hybrid Cells
Restriction Fragment Length Polymorphisms
Minisatellite Repeats
Genomic Library
Cricetulus
Clone Cells
Chromosomes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Kurahashi, Hiroki ; Akagi, Kenzo ; Karakawa, Katsu ; Nakamura, Tsutomu ; Dumanski, Jan P. ; Sano, Tetsuya ; Okada, Shintaro ; Takai, Shin ichiro ; Nishisho, Isamu. / Isolation and mapping of cosmid markers on human chromosome 22, including one within the submicroscopically deleted region of DiGeorge syndrome. In: Human Genetics. 1994 ; Vol. 93, No. 3. pp. 248-254.
@article{2757ff70385649a2b67cffb18989c034,
title = "Isolation and mapping of cosmid markers on human chromosome 22, including one within the submicroscopically deleted region of DiGeorge syndrome",
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.",
author = "Hiroki Kurahashi and Kenzo Akagi and Katsu Karakawa and Tsutomu Nakamura and Dumanski, {Jan P.} and Tetsuya Sano and Shintaro Okada and Takai, {Shin ichiro} and Isamu Nishisho",
year = "1994",
month = "3",
day = "1",
doi = "10.1007/BF00212017",
language = "English",
volume = "93",
pages = "248--254",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer Verlag",
number = "3",

}

Kurahashi, H, Akagi, K, Karakawa, K, Nakamura, T, Dumanski, JP, Sano, T, Okada, S, Takai, SI & 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, vol. 93, no. 3, pp. 248-254. https://doi.org/10.1007/BF00212017

Isolation and mapping of cosmid markers on human chromosome 22, including one within the submicroscopically deleted region of DiGeorge syndrome. / Kurahashi, Hiroki; Akagi, Kenzo; Karakawa, Katsu; Nakamura, Tsutomu; Dumanski, Jan P.; Sano, Tetsuya; Okada, Shintaro; Takai, Shin ichiro; Nishisho, Isamu.

In: Human Genetics, Vol. 93, No. 3, 01.03.1994, p. 248-254.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Isolation and mapping of cosmid markers on human chromosome 22, including one within the submicroscopically deleted region of DiGeorge syndrome

AU - Kurahashi, Hiroki

AU - Akagi, Kenzo

AU - Karakawa, Katsu

AU - Nakamura, Tsutomu

AU - Dumanski, Jan P.

AU - Sano, Tetsuya

AU - Okada, Shintaro

AU - Takai, Shin ichiro

AU - Nishisho, Isamu

PY - 1994/3/1

Y1 - 1994/3/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0027958466&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027958466&partnerID=8YFLogxK

U2 - 10.1007/BF00212017

DO - 10.1007/BF00212017

M3 - Article

C2 - 7907312

AN - SCOPUS:0027958466

VL - 93

SP - 248

EP - 254

JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

IS - 3

ER -