ys is buJlosa . In: E piderm olysis BlIllosn: Basic fl ll d C Ii"icn l Aspects. Lin AN , Carter OM (cds.) . Springie r-Verl ag. New York. 1992 . PI' 235-251 26. H o lbrook KA. Smith LT. Elias S: Pren atal diagnosis of gen etic skin disease using feta l skin bio psy sa mples . Arell D e""alo/1 29 :1 437-1 454. 1993 27 . Parente M G. C hung LC. R yynane n J. Woodley DT. Wynn KC . Bauer EA. Mattei M-G . C hu M-L. Uitto J: I-Iuman type VII collagen : cDNA cloning and chrom osom al mapping of the

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... e . Proc Nflll Acari Sc; USA 88:6931-6935. 199 1 28. C hristiano AM. R osenbaum LM. C hung-H o net LC . Parente M G. Woodley DT. Pan T-C . Z h ang R Z . C hu M -L. Burgeson R IO. Uitto J : T he large n oncollagen oll s domain (NC-l) of type VII coll agen is a_ min o-rennin al and chime ri c. H o m o logy to cartil age matrLx pro tein , the typ e III do m ains of flbrollcctin and the A do main s of VOll Willebrand fa ctor. I-{II'" lVlol Gel/f" 1:475-48 1. 1992 29 . Gam m on WR. Abe rn ethy ML, Padilla KM. Prisayanh PS. Cook ME. Wright J . Brigga lll an RA . Hunt SW I: Noncoll ageno u s (N C I) dom ain of collagen V II rese mbl es l11ul tido m ain adhesio n proteins involved in tiss ue-specifi c o rgani z ation o f extrace llular matri x. J II/ llcst D ennarol 99 :69 1-696, 1992 30. G reenspan OS: The carboxy-terminal h alf of type VII collagen . including the no n-collagcno us NC-2 d o m ain ;uld iJl tro ll / cx:oll org;H1i ziltion of the corn!sponding regio n of the CO L7 A I gene. /-III'" Mol Cell el 2:273-278 . 1993 31. C hristian o AM. H offman GG . C hung-H on et LC . Lee S. W e n C . U itto J . Grec llSp;lIl D S: Structural organ izatio n of the human type VII co llagen gene (COL7 A 1). com posed of m o re cxons than ,m y previo llsly characteri zed gcne. CeIl",/I;CS 21 :1 69-17 9, 1994 32. C hristiano AM . C hung-H o llc t Le, i-I ovnani:1I1 A. Uitto J: P R -bascd de tection of twO c xoni c polymorphi sm s in tll C human typc VI I collagen gene (CO L7A t ) at 31'21.1. Cello",;es 14 :827-828 . 1992 DNA-BAS ED PRENATAL DIAGNOS IS OF RDEB 461 33. hristia no AM . Greenspan OS. Lee S. Uitto J: C loning of human type VII collagen . Complete primary sequ en ce of the "1 (VII ) chain and identification of in tragenic pol)'I110rphisms . J Bioi CI' e", 269:20256 -20262. 1994 34. C hristiano AM . U itto J: DNA-base d prenatal d iagnosis of h erirable skin diseases. A r, h DemlafOl 129:1455-H59. t 993 35 . J ohn SWM , W e itzn e r G. Rozen R . Scnver CR: A rapid procedure for extracting genomic DNA fro m leukocytes _ N llc/eic Arid .. R es 19:408 . 1991 36. Ganly PS. Rabbitts P H: Polymerase cha in reaction (pCR ) for de tecti on of Mspl polym orphism at th e D3S2 locu s. N lle/eie Acid R es 19:3761. 1991 37. She ffie ld VC. Cox DR. Le rman LS. Myers RM : Attachment of a 40-base-pair G + C -rich seq uen ce (GC-c1amp) to gen omic DNA fragmen ts by the polymerase chai n reaction res ults in impl'ovcd dctection of single-base chan ges. Pmc N ntl Acad Sri USA 86:232-236. 1 989 38. Lerman LS. Sil ve rstein K: C0l11putatio nal simulation of DNA melti ng and its application to dc naturing gl'adicl1t gel electrophoresis. In: J Wetllods ill Ell z>,molog)'. Wu R (cd.). Academic Press. New York. 1987. PI' 482-501 39. M yers RM. Mani atis T. Lerm an LS: Detection and localization of sin gle base chan ges by de naturin g gradic n r g el electropho resis. In : i\;fcr/lOds ilJ Ellzymol""!y. W u R (cds.) . Academic Press. New York. 1987. PI' 501-527 40. Gyllenste ll UTI , Erli c h HA : Gen eration of si ngle-strand DNA by the polymerase chai n reaction and its application to direct sequcncing of th e HLA-DQA locus. Proc N aIl Acad Sci USA 85 :7652-7656. 1988 4 1. Lathrop MG. Lalo uel JM: Easy calcula tions of lod scores and gen etic risks on small com puters. A lii J H II'II Ge ll CI 36:460-465. 1984 42 . Terwilli ger J D. Ott J : /-I amlb()ok cU' H'llllall Gellcl;c Lillkasc. J ohns Hopkins U niversity Press. Baltimore. 1994 . pp 307 SKIN DISEASES MUTATION DATABASE T ir e jOffmnl of [, w cs/ign/i/Jc D enlln/ology h as taken th e initiative to develop a computerized database for ski n di seases muta tio ns. Ten tative ly, this service will b e avail able tlu-ougb Internet durin g th e eady part of 1995. T h e indi viduals liste d below h ave agreed to serve as coordinators of th e resp ective area of h eritabl e skin d iseases. We would en courage research ers working in the areas indicated to contac t coordin ators to o btain forms for data submiss ion . T h e info rm ation req uired bt;ef d esCt;ption of the c linical features , m eth o ds u sed to veri ty th e dia gnosis , descI;p tion of the mutation (the gen e . nucleotide chan ges, con seq uen ce of th e mu tatio n) , and possibly a r eferen ce to pub lication d escribing the mutatio n. T hese form s sh o uld be submitted to the coordinatin g in ves ti gators for verifI cation of th e comple te n ess and accuracy of the d ata. The first vers io n of th e database will be published in o n e of th e forth coming issues of the ) olll'llal. W e h o p e th at this servi ce w ill fac ilitate elu cidation of h eritable disorders a ffectin g the skin . Organ iz ing Committee : 1. D ys t r o phic EO/COl7Al 2. EO S imp lex. E HK. Ichthyoses. Keratini z atio n Disord e rs/ K e rnti •• s, T r allsglu t" ,nina scs 3. Junctio nal E O/ Laminin 5. a6{34 Imegrin , BPAG 2 4. H e ri ta bl e Co nn ective T iss u e Disord e rs (EDS . Cl. PXE)/CO L1 A 1. E lN . FBN -1 & 2 . e t c. 5. Pi g m e n tatio n D isorders / Tyrosina se, c Kit. etc . Data Coordina tor (Fax) A n g ela M . C h ristia n o (2 15-955-5788)