Kurahashi H, Akagi K, Karakawa K, Nakamura T, Dumanski J P, Sano T, Okada S, Takai S, Nishisho I
Department of Medical Genetics, Osaka University Medical School, Japan.
Hum Genet. 1994 Mar;93(3):248-54. doi: 10.1007/BF00212017.
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.
从一个中国仓鼠/人类杂交细胞构建了一个基因组黏粒文库，该杂交细胞含有完整的人类22号染色体作为其唯一的人类成分。在1000个含有源自人类22号染色体插入片段的黏粒中，对191个进行了限制性片段长度多态性（RFLP）检测。结果，64个克隆检测到RFLP，包括5个串联重复序列可变数目系统。在其余127个黏粒中，111个检测到人类22号染色体上的单拷贝序列。五个体细胞杂种使我们能够将所有64个多态性黏粒和44个非多态性黏粒定位到人类22号染色体的四个不同区域。在两名患有DiGeorge综合征的患者中，一个已定位到22pter-q11的黏粒检测到半合子状态。这些区域定位到人类22号染色体的108个黏粒标记对于构建长程物理图谱和鉴定该染色体上的遗传改变应该是有用的。
