کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
4060690 | 1603999 | 2014 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Linkage Mapping and Whole Exome Sequencing Identify a Shared Variant in CX3CR1 in a Large Multi-Generation Family
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
ارتوپدی، پزشکی ورزشی و توانبخشی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Linkage Mapping and Whole Exome Sequencing Identify a Shared Variant in CX3CR1 in a Large Multi-Generation Family Linkage Mapping and Whole Exome Sequencing Identify a Shared Variant in CX3CR1 in a Large Multi-Generation Family](/preview/png/4060690.png)
چکیده انگلیسی
Developmental dysplasia of the hip (DDH) is a crippling condition that affects children and adults, with an average incidence of 1–1.5 cases per 1000 live births. It results in disabling arthritis of the hip in up to 60% patients in the 20–40 year age group. There is no accurate diagnostic test available for newborns. The purpose of our study is to develop a sensitive and specific genetic test for DDH by identifying causative mutations. Linkage analysis and whole exome sequencing of 4 severely affected individuals of a 4 generation 71 member family was performed. The damaging rs3732378 variant in the CX3CR1 chemokine receptor was shared by all affected family members and by 15% of 28 sporadic dysplastics.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: The Journal of Arthroplasty - Volume 29, Issue 9, Supplement, September 2014, Pages 238–241
Journal: The Journal of Arthroplasty - Volume 29, Issue 9, Supplement, September 2014, Pages 238–241
نویسندگان
George J. Feldman, Javad Parvizi, Hind Sawan, Jill A. Erickson, Christopher L. Peters,